Developmental delay and assessment in an infant with PCWH syndrome: A case report

Developmental delay and assessment in an infant with PCWH syndrome: A case report

Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during early embryonic development and in the glial cells o...

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Bibliographic Details
Main Authors: Ashna Kumar, Michelle do Rosario, Shahyan Siddiqui, Divyani Garg, Anju Shukla, Suvasini Sharma
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Annals of Movement Disorders
Subjects:
hirschsprung’s disease
hypomyelination
pendular nystagmus
waardenburg syndrome
Online Access:http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=96;epage=99;aulast=Kumar

Internet

http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=96;epage=99;aulast=Kumar

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