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Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

Human molecular genetics - 1 Apr 1996

Pandya A, Xia X J, Landa B L, Arnos K S, Israel J, Lloyd J, James A L, Diehl S R, Blanton S H, Nance W E

Abstract excerpt

We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6. The affected members of one family carried substitutions involving two base pairs separated by one unaltered codon. Two of the deleterious...

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Source

Identifiers

PMID: 8845842
DOI: 10.1093/hmg/5.4.497

Genes

PAX3

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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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Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?PMID 8845842Read ↗

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