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Article

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

Clinical dysmorphology - 1 Apr 2016

Brueggemann Felix B, Bartsch Oliver

Abstract excerpt

The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked...

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PMID: 26882220
DOI: 10.1097/MCD.0000000000000117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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