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Keywords: Genetic syndrome
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Journal Articles

Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome

Subject Area:
Topic Article Package: Moksha , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Durdugul Ayyildiz Emecen, Esra Isik, Gulen E. Utine, Pelin O. Simsek-Kiper, Tahir Atik, Ferda Ozkinay
Journal: Molecular Syndromology
Mol Syndromol (2020) 11 (5-6): 296–301.
https://doi.org/10.1159/000511609
Published Online: 20 November 2020
... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Facial dysmorphism Genetic syndrome Language impairment Mowat-Wilson syndrome ZEB2...
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Journal Articles

Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Lélia L. Gonçalves Ramos, Irene Plaza Pinto, Rajib Deb, Cristiano L. Ribeiro, Damiana Mírian da Cruz e Cunha, Lysa Bernardes Minasi, Antonio M.T. Cordeiro Silva, Aparecido D. da Cruz
Journal: Molecular Syndromology
Mol Syndromol (2019) 10 (4): 214–218.
https://doi.org/10.1159/000500005
Published Online: 27 April 2019
.... Chromosomal microarray analysis DKC1 Genetic syndrome Global developmental delay The Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked multisystem recessive genetic disorder first described by Aalfs et al. [1995]. Clinically, HHS is seen as a severe form of dyskeratosis congenital (DKC...
View articletitled, Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome
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