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Article

Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.

American journal of human genetics - 1 Feb 1996

Reynolds J E, Marazita M L, Meyer J M, Stevens C A, Eaves L J, Arnos K S, Ploughman L M, MacLean C, Nance W E, Diehl S R

Abstract excerpt

We used segregation analysis to investigate the genetic basis of variation in dystopia canthorum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1). We sought to determine whether the W-index, a quantitative measure of this craniofacial feature, is influenced primarily either by allelic variation in the PAX3 disease gene or other major loci, by polygenic background effects, or by all of...

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Identifiers

PMID: 8571965
PMCID: PMC1914540

Genes

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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