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Article

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

Journal of medical genetics - 1 Aug 2002

Barrow L L, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum S E C, Gorlin R, Murray J C

Abstract excerpt

EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth...

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Identifiers

PMID: 12161593
DOI: 10.1136/jmg.39.8.559
PMCID: PMC1735218

Provenance

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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Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.PMID 12161593Read ↗

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