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Article

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.

Genome research - 1 Mar 1999

Southard-Smith E M, Angrist M, Ellison J S, Agarwala R, Baxevanis A D, Chakravarti A, Pavan W J

Abstract excerpt

Hirschsprung disease (HSCR) is a multigenic neurocristopathy clinically recognized by aganglionosis of the distal gastrointestinal tract. Patients presenting with aganglionosis in association with hypopigmentation are classified as Waardenburg syndrome type 4 (Waardenburg-Shah, WS4). Variability in the disease phenotype of WS4 patients with equivalent mutations suggests the influence of genetic modifier loci in...

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Source

Identifiers

PMID: 10077527

Genes

SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.PMID 10077527Read ↗

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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.Semantic proximity Read ↗

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