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Article

AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene.

European journal of dermatology : EJD - 1 Jan 2000

Tomková Hana, Fujimoto Wataru, Uchida Takafumi, Macko Jozef, Gaillyová Renata, Bucková Hana

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to SAM Domain and HD Domain-Containing Protein 1

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Identifiers

PMID: 20156774
DOI: 10.1684/ejd.2010.0931

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene.PMID 20156774Read ↗

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

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

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.Semantic proximity Read ↗

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC SyndromeSemantic proximity Read ↗

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).Semantic proximity Read ↗

Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal DysplasiaSemantic proximity Read ↗

Hay-Wells syndrome in a child with mutation in the TP73L gene.Semantic proximity Read ↗

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.Semantic proximity Read ↗

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New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

p63-associated disorders.Semantic proximity Read ↗

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.Semantic proximity Read ↗

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