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Article

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.

Annals of neurology - 1 Dec 2002

Inoue Ken, Shilo Konstantin, Boerkoel Cornelius F, Crowe Carol, Sawady Joram, Lupski James R, Agamanolis Dimitri P

Abstract excerpt

A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous S...

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Source

Identifiers

PMID: 12447940
DOI: 10.1002/ana.10404

Genes

SOX10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12447940-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.PMID 12447940Read ↗

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