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Article

Hay-Wells syndrome in a child with mutation in the TP73L gene.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG - 1 Oct 2007

Garcia Bartels Natalie, Neumann Luitgard M, Mleczko Anna, Rubach Katharina, Peters Hartmut, Rossi Rainer, Sterry Wolfram, Blume-Peytavi Ulrike

Abstract excerpt

Hay-Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three-month-old boy, born to unaffected parents, with typical clinical...

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Identifiers

PMID: 17910675
DOI: 10.1111/j.1610-0387.2007.06379.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hay-Wells syndrome in a child with mutation in the TP73L gene.PMID 17910675Read ↗

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

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

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.Semantic proximity Read ↗

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