Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Waardenburg syndrome type I (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant mutation with variable penetrance and expressivity. Of individuals with this mutation, 20%-25% are hearing impaired. A multilocus linkage analysis of RFLP data from a single WS1 family with 11 affected indivi...

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Bibliographische Detailangaben
Hauptverfasser: Asher, J H, Morell, R, Friedman, T B
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1991
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682754/
https://ncbi.nlm.nih.gov/pubmed/1670751
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