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Article

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

The Turkish journal of pediatrics - 1 Jan 2000

Ergin Hacer, Semerci C Nur, Karakuş Y Tuğrul, Scheffer Hans, Ergin Seniz, Koltuksuz Uğur, Meijer Rowdy, Satiroğlu-Tufan N Lale

Abstract excerpt

The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in...

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PMID: 21434540

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.PMID 21434540Read ↗

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EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.Semantic proximity Read ↗

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.Semantic proximity Read ↗

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