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Article

Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia

1 Jun 2003

Abstract excerpt

Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene. We investigated whether Rapp-Hodgkin syndrome (RHS) is also caused by mutations in the p63 gene. We identified a heterozygous de novo germline missense mutation, S545P, in the sterile-alpha-motif...

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PMID: 12766194
DOI: 10.1177/154405910308200606

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Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal DysplasiaPMID 12766194Read ↗

An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.Semantic proximity Read ↗

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63Semantic proximity Read ↗

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.Semantic proximity Read ↗

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