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Article

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.

Human heredity - 1 Jan 2000

Reynolds J E, Arnos K S, Landa B, Stevens C A, Salbert B A, Wright L, Duke B, Hunt W, Marazita M L, Ploughman L

Abstract excerpt

We performed linkage and locus heterogeneity analyses of Waardenburg syndrome (WS) types 1 and 2 using 9 DNA markers from 2q35-q37, including two highly polymorphic microsatellites very closely linked to the PAX3 candidate gene. None of 5 WS type 2 (WS2) families showed linkage to the PAX3 candidate region. We localized the marker D2S102 to less than 1 cM from PAX3 (lod = 33.7, theta = 0), but a complete absence...

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Source

Identifiers

PMID: 7590754
DOI: 10.1159/000154307

Genes

PAX3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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