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Article

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

1 Feb 2001

Abstract excerpt

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other...

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PMID: 11159940
DOI: 10.1093/hmg/10.3.221

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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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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63PMID 11159940Read ↗

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A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia.Semantic proximity Read ↗

Isoform-Specific Roles of Mutant p63 in Human DiseasesSemantic proximity Read ↗

AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene.Semantic proximity Read ↗

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Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Semantic proximity Read ↗

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-upSemantic proximity Read ↗

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