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Article

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.

Annals of neurology - 1 Oct 2000

Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P

Abstract excerpt

We describe the case of a girl with an unusual congenital phenotype, combining peculiar peripheral nerve lesions with hypomyelination, chronic intestinal pseudoobstruction, and deafness. She was found to have a de novo heterozygous frameshift mutation in the gene encoding the SOX10 transcription factor. The likely role of SOX10 in determining the fate of Schwann cells during early embryogenesis may explain the...

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Identifiers

PMID: 11026454

Genes

SOX10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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