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Issues

Volume 5, Issue 6
December 2014
Molecular Syndromology Cover Image for Volume 5, Issue 6
All Issues
ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2014, Vol. 5, No. 6

Editorial

All Humans, Great or Small, Short or Tall
Martin Poot
Mol Syndromol (2014) 5 (6): 257–258. https://doi.org/10.1159/000368860
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Original Article

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping
Mustapha Amyere; Anne Dompmartin; Vinciane Wouters; Odile Enjolras; Ilkka Kaitila; Pierre-Louis Docquier; Catherine Godfraind; John Butler Mulliken; Laurence Myriam Boon; Miikka Vikkula
Mol Syndromol (2014) 5 (6): 259–267. https://doi.org/10.1159/000365898
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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families
Renata Moldenhauer Minillo; Nara Sobreira; Maria de Fatima de Faria Soares; Julie Jurgens; Hua Ling; Kurt N. Hetrick; Kimberly F. Doheny; David Valle; Decio Brunoni; Ana B. Alvarez Perez
Mol Syndromol (2014) 5 (6): 268–275. https://doi.org/10.1159/000369108
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A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development
Kerry A. Miller; Tiong Y. Tan; Megan F. Welfare; Susan M. White; Zornitza Stark; Ravi Savarirayan; Trent Burgess; Andrew A. Heggie; Georgina Caruana; John F. Bertram; John F. Bateman; Peter G. Farlie
Mol Syndromol (2014) 5 (6): 276–286. https://doi.org/10.1159/000368865
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Case Report

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon
Cedrik Tekendo-Ngongang; Sophie Dahoun; Seraphin Nguefack; Stefania Gimelli; Frédérique Sloan-Béna; Ambroise Wonkam
Mol Syndromol (2014) 5 (6): 287–292. https://doi.org/10.1159/000369421
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Short Report

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Mathilde Huckert; Helen Mecili; Virginie Laugel-Haushalter; Corinne Stoetzel; Jean Muller; Elisabeth Flori; Vincent Laugel; Marie-Cécile Manière; Hélène Dollfus; Agnès Bloch-Zupan
Mol Syndromol (2014) 5 (6): 293–298. https://doi.org/10.1159/000366252
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Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings
Bee Chin Chen; Rowani Mohd Rawi; Rutger Meinsma; Judith Meijer; Raoul C.M. Hennekam; André B.P. van Kuilenburg
Mol Syndromol (2014) 5 (6): 299–303. https://doi.org/10.1159/000366074
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A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome
Ebtesam M. Abdalla; Cristina Has
Mol Syndromol (2014) 5 (6): 304–306. https://doi.org/10.1159/000369267
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Contents Vol. 5, 2014
Mol Syndromol (2014) 5 (6): I–IV. https://doi.org/10.1159/000370090
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A rare case of Bardet-Biedl syndrome caused by a heterozygous point variant in BBS7 and a CNV involved BBS7
A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability
CRB2-Related Syndrome in Two New Patients: Three Novel Variants
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