Genetic Hearing Impairment: Its Clinical Presentations
A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available.
To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.
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Table of Contents
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1 - 10: Understanding Inner Ear Physiology at the Molecular LevelByS.W. Hone;S.W. HoneDepartment of Otolaryngology, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:R.J.H. SmithR.J.H. SmithDepartment of Otolaryngology, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:
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11 - 27: Molecular Diagnosis of Hereditary Hearing ImpairmentByH. Kremer;H. KremeraDepartments of Otorhinolaryngology andSearch for other works by this author on:L.H. HoefslootL.H. HoefslootbHuman Genetics, University Medical Center Nijmegen, The NetherlandsSearch for other works by this author on:
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28 - 33: Developments in Cochlear Gene TherapyByA.K. Lalwani;A.K. LalwaniaLaboratory of Molecular Otology, Epstein Laboratories andbDivision of Otology, Neurotology, and Skull Base Surgery, Department of Otolaryngology – Head & Neck Surgery, University of California San Francisco, Calif., USA, andSearch for other works by this author on:J. Jero;J. JeroaLaboratory of Molecular Otology, Epstein Laboratories andcDepartment of Otolaryngology, Helsinki University Central Hospital, Helsinki, FinlandSearch for other works by this author on:A.N. MhatreA.N. MhatreaLaboratory of Molecular Otology, Epstein Laboratories andSearch for other works by this author on:
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34 - 40: Auditory Phenotype of DFNA1ByP.E. Leon;P.E. LeonaCenter for Research and Molecular Biology, University of Costa Rica, San Jose, Costa Rica andSearch for other works by this author on:A.K. LalwaniA.K. LalwanibLaboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology – Head & Neck Surgery, University of California San Francisco, Calif., USASearch for other works by this author on:
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41 - 46: DFNA2/KCNQ4 and Its ManifestationsByE.M.R. De Leenheer;E.M.R. De LeenheeraDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:R.J.H. Ensink;R.J.H. EnsinkaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:H.P.M. Kunst;H.P.M. KunstaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:H.A.M. Marres;H.A.M. MarresaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:Z. Talebizadeh;Z. TalebizadehbSection of Medical Genetics and Molecular Medicine, Children’s Mercy Hospital, Kansas City, Mo., USA;Search for other works by this author on:F. Declau;F. DeclaucUniversity Department of Otorhinolaryngology, University of Antwerp, Belgium;Search for other works by this author on:S.D. Smith;S.D. SmithdCenter for Human Molecular Genetics, Munroe Meyer Institute, University of Nebraska Medical Center, Omaha, Nebr., USA;Search for other works by this author on:S.-i. Usami;S.-i. UsamieDepartment of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan, andSearch for other works by this author on:P.H. Van de Heyning;P.H. Van de HeyningcUniversity Department of Otorhinolaryngology, University of Antwerp, Belgium;Search for other works by this author on:G. van Camp;G. van CampfDepartment of Medical Genetics, University of Antwerp, BelgiumSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:
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47 - 52: DFNA3ByF. Denoyelle;F. DenoyelleService d’ORL Pédiatrique et de Chirurgie Cervicofaciale, AP-HP et Université Paris VI, Hôpital d’Enfants Armand-Trousseau, Paris, FranceSearch for other works by this author on:G. Lina-Granade;G. Lina-GranadeService d’ORL Pédiatrique et de Chirurgie Cervicofaciale, AP-HP et Université Paris VI, Hôpital d’Enfants Armand-Trousseau, Paris, FranceSearch for other works by this author on:C. PetitC. PetitService d’ORL Pédiatrique et de Chirurgie Cervicofaciale, AP-HP et Université Paris VI, Hôpital d’Enfants Armand-Trousseau, Paris, FranceSearch for other works by this author on:
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53 - 59: Clinical Features of DFNA5ByE.M.R. De Leenheer;E.M.R. De LeenheeraDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:D.A. van Zuijlen;D.A. van ZuijlenbDepartment of Otorhinolaryngology, Head and Neck Surgery, University Medical Centre Utrecht, The Netherlands, andSearch for other works by this author on:L. van Laer;L. van LaercDepartment of Medical Genetics, University of Antwerp, BelgiumSearch for other works by this author on:G. van Camp;G. van CampcDepartment of Medical Genetics, University of Antwerp, BelgiumSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:E.H. Huizing;E.H. HuizingbDepartment of Otorhinolaryngology, Head and Neck Surgery, University Medical Centre Utrecht, The Netherlands, andSearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:
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60 - 65: Clinical Presentation of DFNA8-DFNA12ByP.J. Govaerts;P.J. GovaertsaUniversity Department Otolaryngology, St. Augustinus Hospital, Antwerp-Wilrijk, Belgium;Search for other works by this author on:G. De Ceulaer;G. De CeulaeraUniversity Department Otolaryngology, St. Augustinus Hospital, Antwerp-Wilrijk, Belgium;Search for other works by this author on:K. Daemers;K. DaemersaUniversity Department Otolaryngology, St. Augustinus Hospital, Antwerp-Wilrijk, Belgium;Search for other works by this author on:K. Verhoeven;K. VerhoevenbDepartment of Medical Genetics, University of Antwerp, Belgium, andSearch for other works by this author on:G. van Camp;G. van CampbDepartment of Medical Genetics, University of Antwerp, Belgium, andSearch for other works by this author on:I. Schatteman;I. SchattemanaUniversity Department Otolaryngology, St. Augustinus Hospital, Antwerp-Wilrijk, Belgium;Search for other works by this author on:M. Verstreken;M. VerstrekenbDepartment of Medical Genetics, University of Antwerp, Belgium, andSearch for other works by this author on:P.J. Willems;P.J. WillemscDepartment of Clinical Genetics, Erasmus University, Rotterdam, The NetherlandsSearch for other works by this author on:T. Somers;T. SomersaUniversity Department Otolaryngology, St. Augustinus Hospital, Antwerp-Wilrijk, Belgium;Search for other works by this author on:F.E. OffeciersF.E. OffeciersaUniversity Department Otolaryngology, St. Augustinus Hospital, Antwerp-Wilrijk, Belgium;Search for other works by this author on:
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66 - 72: DFNA9/COCH and Its PhenotypeByM.H. Kemperman;M.H. KempermanaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands;Search for other works by this author on:S.J.H. Bom;S.J.H. BomaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands;Search for other works by this author on:F.X. Lemaire;F.X. LemairebUniversity Hospitals Leuven, Belgium, andSearch for other works by this author on:W.I.M. Verhagen;W.I.M. VerhagencDepartment of Neurology, Canisius-Wilhelmina Hospital, Nijmegen, The NetherlandsSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands;Search for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands;Search for other works by this author on:
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73 - 78: DFNA10/EYA4 - The Clinical PictureByE.M.R. De Leenheer;E.M.R. De LeenheeraDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:S. Wayne;S. WaynebMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA, andSearch for other works by this author on:M. Verstreken;M. VerstrekencUniversity Department of Otorhinolaryngology andSearch for other works by this author on:F. Declau;F. DeclaucUniversity Department of Otorhinolaryngology andSearch for other works by this author on:G. van Camp;G. van CampdDepartment of Medical Genetics, University of Antwerp, BelgiumSearch for other works by this author on:P.H. Van de Heyning;P.H. Van de HeyningcUniversity Department of Otorhinolaryngology andSearch for other works by this author on:R.J.H. Smith;R.J.H. SmithbMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA, andSearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands;Search for other works by this author on:
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79 - 84: Clinical Presentation of DFNA11 (MYO7A)ByY. Tamagawa;Y. TamagawaaDepartments of Otolaryngology andSearch for other works by this author on:K. Ishikawa;K. IshikawaaDepartments of Otolaryngology andSearch for other works by this author on:K. Ishikawa;K. IshikawaaDepartments of Otolaryngology andSearch for other works by this author on:K. Kitamura;K. KitamuracDepartment of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, JapanSearch for other works by this author on:S. Makino;S. MakinobOphthalmology, Jichi Medical School, Minamikawachi; andSearch for other works by this author on:T. Tsuru;T. TsurucDepartment of Otolaryngology, School of Medicine, Tokyo Medical and Dental University, Tokyo, JapanSearch for other works by this author on:K. IchimuraK. IchimuraaDepartments of Otolaryngology andSearch for other works by this author on:
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85 - 91: The Phenotype of DFNA13/COL11A2ByE.M.R. De Leenheer;E.M.R. De LeenheeraDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands, andSearch for other works by this author on:W.T. McGuirt;W.T. McGuirtbMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:H.P.M. Kunst;H.P.M. KunstaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands, andSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands, andSearch for other works by this author on:R.J.H. Smith;R.J.H. SmithbMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands, andSearch for other works by this author on:
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92 - 97: The Clinical Presentation of DFNA15/POU4F3ByI. Gottfried;I. GottfriedaDepartment of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, andSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenbDepartment of Otolaryngology, Medical Centre St Radboud, Nijmegen, The NetherlandsSearch for other works by this author on:K.B. AvrahamK.B. AvrahamaDepartment of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, andSearch for other works by this author on:
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98 - 106: Clinical Presentation of the DFNA Loci Where Causative Genes Have Not Yet Been Cloned: DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21ByP.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands andSearch for other works by this author on:S.J.H. Bom;S.J.H. BomaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands andSearch for other works by this author on:G. van Camp;G. van CampbDepartment of Medical Genetics, University of Antwerp, BelgiumSearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands andSearch for other works by this author on:
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107 - 112: Auditory Phenotype of DFNA17ByA.K. Lalwani;A.K. LalwaniaLaboratory of Molecular Otology, Epstein Laboratories andbDivision of Otology, Neurotology, and Skull Base Surgery, Department of Otolaryngology – Head & Neck Surgery, University of California San Francisco, Calif., USASearch for other works by this author on:J.A. Goldstein;J.A. GoldsteinaLaboratory of Molecular Otology, Epstein Laboratories andSearch for other works by this author on:A.N. MhatreA.N. MhatreaLaboratory of Molecular Otology, Epstein Laboratories andSearch for other works by this author on:
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113 - 119: Clinical Presentation of DFNB1ByW.T. McGuirt;W.T. McGuirtMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:S.D. Prasad;S.D. PrasadMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:R.A. Cucci;R.A. CucciMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:G.F. Green;G.F. GreenMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:R.J.H. SmithR.J.H. SmithMolecular Otolaryngology Research Laboratories, Department of Otolaryngology – Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USASearch for other works by this author on:
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120 - 123: The Clinical Presentation of DFNB2ByX.Z. LiuX.Z. LiuDepartment of Otolaryngology, University of Miami, Fla., USASearch for other works by this author on:
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124 - 130: DFNB3, Spectrum of MYO15A Recessive Mutant Alleles and an Emerging Genotype-Phenotype CorrelationByT.B. Friedman;T.B. FriedmanaLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA;Search for other works by this author on:J.T. Hinnant;J.T. HinnantbDepartment of Religious Studies, Michigan State University, East Lansing, Mich., USA;Search for other works by this author on:M. Ghosh;M. GhoshcGenetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India;Search for other works by this author on:E.T. Boger;E.T. BogeraLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA;Search for other works by this author on:S. Riazuddin;S. RiazuddindCenter of Excellence in Molecular Biology, Lahore, Pakistan;Search for other works by this author on:J.R. Lupski;J.R. LupskieDepartment of Molecular and Human Genetics, Baylor College of Medicine and Department of Pediatrics, Texas Children’s Hospital, Houston, Tex., USA, andSearch for other works by this author on:L. Potocki;L. PotockifDepartment of Molecular and Human Genetics, Baylor College of Medicine, Texas Children’s Hospital, Houston, Tex., USASearch for other works by this author on:E.R. WilcoxE.R. WilcoxaLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA;Search for other works by this author on:
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131 - 141: Pendred Syndrome Redefined: Report of a New Family with Fluctuating and Progressive Hearing LossByC. Stinckens;C. StinckensaDepartment of Oto-Rhino-Laryngology, Head and Neck Surgery, KU Leuven, Belgium;Search for other works by this author on:P.L.M. Huygen;P.L.M. HuygenbDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:G. van Camp;G. van CampcDepartment of Medical Genetics, University of Antwerp, BelgiumSearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersbDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:
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142 - 144: DFNB9ByF. Denoyelle;F. DenoyelleUnité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, FranceSearch for other works by this author on:C. PetitC. PetitUnité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, FranceSearch for other works by this author on:
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145 - 152: Clinical Presentation of DFNB12 and Usher Syndrome Type 1DByJ.M. Bork;J.M. BorkaLaboratory of Molecular Genetics andSearch for other works by this author on:R.J. Morell;R.J. MorellaLaboratory of Molecular Genetics andSearch for other works by this author on:S. Khan;S. KhancNational Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanSearch for other works by this author on:S. Riazuddin;S. RiazuddincNational Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanSearch for other works by this author on:E.R. Wilcox;E.R. WilcoxaLaboratory of Molecular Genetics andSearch for other works by this author on:T.B. Friedman;T.B. FriedmanaLaboratory of Molecular Genetics andSearch for other works by this author on:A.J. GriffithA.J. GriffithaLaboratory of Molecular Genetics andbNeuro-Otology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA andSearch for other works by this author on:
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153 - 155: DFNB21ByF. Denoyelle;F. DenoyelleUnité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, FranceSearch for other works by this author on:M. Mustapha;M. MustaphaUnité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, FranceSearch for other works by this author on:C. PetitC. PetitUnité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, FranceSearch for other works by this author on:
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156 - 160: Clinical Manifestations of DFNB29 DeafnessByZ.M. Ahmed;Z.M. AhmedaLaboratory of Molecular GeneticscNational Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanSearch for other works by this author on:S. Riazuddin;S. RiazuddinaLaboratory of Molecular GeneticsSearch for other works by this author on:T.B. Friedman;T.B. FriedmanaLaboratory of Molecular GeneticsSearch for other works by this author on:S. Riazuddin;S. RiazuddincNational Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanSearch for other works by this author on:E.R. Wilcox;E.R. WilcoxaLaboratory of Molecular GeneticsSearch for other works by this author on:A.J. GriffithA.J. GriffithaLaboratory of Molecular GeneticsbNeuro-Otology Branch, National Institute on Deafness and Other Communication Disorders, National Institute of Health, Rockville, Md., USA, andSearch for other works by this author on:
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161 - 167: X-Linked Mixed Deafness Syndrome with Congenital Fixation of the Stapedial Footplate and Perilymphatic Gusher (DFN3)ByC.W.R.J. Cremers;C.W.R.J. CremersaDepartments of Otorhinolaryngology,Search for other works by this author on:A.F.M. Snik;A.F.M. SnikaDepartments of Otorhinolaryngology,Search for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartments of Otorhinolaryngology,Search for other works by this author on:F.P.M. CremersF.P.M. CremerscHuman Genetics, University Medical Centre, Nijmegen, The NetherlandsSearch for other works by this author on:
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168 - 171: Clinical Phenotype of DFN2, DFN4 and DFN6ByM.H.F. Pfister;M.H.F. PfisteraDepartment of Otolaryngology, University of Tübingen, Germany, andSearch for other works by this author on:A.K. LalwaniA.K. LalwanibLaboratory of Molecular Otology, Epstein Laboratories, University of California San Francisco, Calif., USASearch for other works by this author on:
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172 - 183: The Clinical Spectrum of Maternally Transmitted Hearing LossByR.J.H. Ensink;R.J.H. EnsinkDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The NetherlandsSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The NetherlandsSearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The NetherlandsSearch for other works by this author on:
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184 - 191: Hearing Impairment in Usher´s SyndromeByR.J.E. Pennings;R.J.E. PenningsaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:M. Wagenaar;M. WagenaaraDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:Nijmegen van Aarem;Nijmegen van AaremaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:W.J. Kimberling;W.J. KimberlingbGenetics Department, Boys Town National Research Hospital, Omaha, Nebr., USASearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartment of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands andSearch for other works by this author on:
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192 - 200: The Branchio-Oto-Renal SyndromeByM.H. Kemperman;M.H. KempermanaDepartments of Otorhinolaryngology andSearch for other works by this author on:C. Stinckens;C. StinckenscDepartment of Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium, andSearch for other works by this author on:S. Kumar;S. KumardDepartment of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebr., USASearch for other works by this author on:F.B.M. Joosten;F.B.M. JoostenbRadiology, University Medical Centre St Radboud, Nijmegen, The Netherlands;Search for other works by this author on:P.L.M. Huygen;P.L.M. HuygenaDepartments of Otorhinolaryngology andSearch for other works by this author on:C.W.R.J. CremersC.W.R.J. CremersaDepartments of Otorhinolaryngology andSearch for other works by this author on:
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201 - 208: Clinical Features of the Waardenburg SyndromesByV.E. NewtonV.E. NewtonDepartment of Audiological Medicine, Manchester Royal Infirmary and Manchester University, Manchester, UKSearch for other works by this author on:
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209 - 215: Hearing Loss in the Treacher-Collins SyndromeByH.A.M. MarresH.A.M. MarresDepartment of Otorhinolaryngology, UMC St Radboud, Nijmegen, The NetherlandsSearch for other works by this author on:
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216 - 223: Hearing Impairment in Stickler SyndromeByR.J.C. Admiraal;R.J.C. AdmiraalaDepartments of Otorhinolaryngology andSearch for other works by this author on:Y.M. Szymko;Y.M. SzymkocNational Institute on Deafness and Other Communication Disorders, Neuro-Otology Branch, Laboratory of Molecular Genetics, Rockville, Md., USASearch for other works by this author on:A.J. Griffith;A.J. GriffithcNational Institute on Deafness and Other Communication Disorders, Neuro-Otology Branch, Laboratory of Molecular Genetics, Rockville, Md., USASearch for other works by this author on:H.G. Brunner;H.G. BrunnerbHuman Genetics, University Medical Centre St Radboud, Nijmegen, The Netherlands, andSearch for other works by this author on:P.L.M. HuygenP.L.M. HuygenaDepartments of Otorhinolaryngology andSearch for other works by this author on:
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224 - 229: Genetic Modifiers of Hereditary Hearing LossByS. Riazuddin;S. RiazuddinaLaboratory of Molecular Genetics andSearch for other works by this author on:Z.M. Ahmed;Z.M. AhmedaLaboratory of Molecular Genetics andcNational Center of Excellence in Molecular Biology, University of the Punjab, Lahore, PakistanSearch for other works by this author on:T.B. Friedman;T.B. FriedmanaLaboratory of Molecular Genetics andSearch for other works by this author on:A.J. Griffith;A.J. GriffithaLaboratory of Molecular Genetics andbNeuro-Otology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA andSearch for other works by this author on:S. Riazuddin;S. RiazuddincNational Center of Excellence in Molecular Biology, University of the Punjab, Lahore, PakistanSearch for other works by this author on:E.R. WilcoxE.R. WilcoxaLaboratory of Molecular Genetics andSearch for other works by this author on:
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230 - 240: Genetic Evaluation and Counseling for Congenital DeafnessByG.E. Green;G.E. GreenaPediatric Otolaryngology, University of Arizona, Tucson, Ariz., USASearch for other works by this author on:C. CunniffC. CunniffbDepartment of Pediatrics, University of Arizona, Tucson, Ariz., USASearch for other works by this author on: