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Article

Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Sept 2010

Paranaíba Lívia Máris Ribeiro, Martelli-Júnior Hercílio, de Miranda Roseli Teixeira, Bufalino Andréia, Abdo Filho Ruy Camargo, Coletta Ricardo D

Abstract excerpt

Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27-29 located p63 gene. In this paper we describe a 17-year-o...

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Identifiers

PMID: 20180707
DOI: 10.1597/09-063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20180707-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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