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Article

The p63 gene in EEC and other syndromes.

Journal of medical genetics - 1 Jun 2002

Brunner H G, Hamel B C J, Van Bokhoven H

Abstract excerpt

Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot...

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Source

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Identifiers

PMID: 12070241
DOI: 10.1136/jmg.39.6.377
PMCID: PMC1735150

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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