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Article

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.

American journal of medical genetics. Part A - 1 Sept 2018

Stevenson Roger E, Vincent Victoria, Spellicy Catherine J, Friez Michael J, Chaubey Alka

Abstract excerpt

Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain phenotypes, the most recognized being skeletal dysplasias associated with short stature, lead to cultural interaction and assortative mating. To this well-known example, may be added deafness which brings together individuals with a variety of deafness...

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Source

Identifiers

PMID: 30113773
DOI: 10.1002/ajmg.a.40362

Genes

SOX10
MITF
PAX3

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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