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Article

Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.

Human molecular genetics - 15 Mar 2018

Truch Kathrin, Arter Juliane, Turnescu Tanja, Weider Matthias, Hartwig Anna C, Tamm Ernst R, Sock Elisabeth, Wegner Michael

Abstract excerpt

Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the...

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Identifiers

PMID: 29361054
DOI: 10.1093/hmg/ddy029

Genes

SOX10

Variants

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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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Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.PMID 29361054Read ↗

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