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Article

TP63 mutation and clefting modifier genes in an EEC syndrome family.

Clinical genetics - 1 Sept 2004

Ray A K, Marazita M L, Pathak R, Beever C L, Cooper M E, Goldstein T, Shaw D F, Field L L

Abstract excerpt

Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that cont...

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Identifiers

PMID: 15324320
DOI: 10.1111/j.1399-0004.2004.00287.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15324320-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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