Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature-Reference-Cited by-同舟云学术

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Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature

Published:2006-01 Issue:1 Volume:10 Page:11-17
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Verheij Johanna B.G.M.,Sival Deborah A.,van der Hoeven Johannes H.,Vos Yvonne J.,Meiners Linda C.,Brouwer Oebele F.,van Essen Anthonie J.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference21 articles.

1. Waardenburg syndrome;Read;J Med Genet,1997

2. Chick Sox10, a transcription factor expressed in both early neural crest cells and central nervous system;Cheng;Dev Brain Res,2000

3. Mutation of the sry-related Sox10 gene in dominant megacolon, a mouse model for human Hirschsprung disease;Herbarth;Proc Natl Acad Sci USA,1998

4. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model;Southard-Smith;Nat Genet,1998

5. Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10;Sonnenberg-Riethmacher;Mech Dev,2001

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1. Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review;Cureus;2024-05-08

2. Developmental delay and assessment in an infant with PCWH syndrome: A case report;Annals of Movement Disorders;2023-01-31

3. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04

4. Comparative role of SOX10 gene in the gliogenesis of central, peripheral, and enteric nervous systems;Differentiation;2022-11

5. Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation;BMJ Case Reports;2022-06

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