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Article

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

Clinical and experimental dermatology - 1 Dec 2009

Sorasio L, Biamino E, Garelli E, Ferrero G B, Silengo M C

Abstract excerpt

Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is an autosomal dominant form of ectodermal dysplasia associated with limb anomalies and orofacial clefting. The TP63 gene has been shown to be the cause of the disease, and some tentative genotype-phenotype correlations have been reported. We describe a familial case of EEC syndrome, diagnosed in two siblings affected by severe ectrodactyly and...

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Identifiers

PMID: 19663851
DOI: 10.1111/j.1365-2230.2009.03451.x

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A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.PMID 19663851Read ↗

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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 ↗

[Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].Semantic proximity Read ↗

TP63-related disorders: two case reports and a brief review of the literature.Semantic proximity Read ↗

TP63 mutation and clefting modifier genes in an EEC syndrome family.Semantic proximity Read ↗

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.Semantic proximity Read ↗

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.Semantic proximity Read ↗

Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.Semantic proximity Read ↗

Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Semantic proximity Read ↗

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