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Article

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

American journal of medical genetics. Part A - 15 Apr 2008

Sznajer Yves, Coldéa Cristina, Meire Françoise, Delpierre Isabelle, Sekhara Tayeb, Touraine Renaud L

Abstract excerpt

Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation...

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Source

Identifiers

PMID: 18348267
DOI: 10.1002/ajmg.a.32247

Genes

SOX10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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