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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Annals of Movement Disorders |
| Subjects: | |
| Online Access: | http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=96;epage=99;aulast=Kumar |