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Article

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

Human molecular genetics - 12 Aug 2000

Bondurand N, Pingault V, Goerich D E, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M

Abstract excerpt

Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in 40 000 that manifests with sensorineural deafness and pigmentation defects. It is classified into four types depending on the presence or absence of additional symptoms. WS1 and WS3 are due to mutations in the PAX3 gene whereas some WS2 cases are associated with mutations in the microphthalmia-associated transcription factor...

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Source

Identifiers

PMID: 10942418
DOI: 10.1093/hmg/9.13.1907

Genes

MITF
PAX3
SOX10
EDN3
EDNRB

Provenance

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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Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.PMID 10942418Read ↗

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