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Article

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

Fetal and pediatric pathology - 1 Jan 2015

Eisenkraft Arik, Pode-Shakked Ben, Goldstein Nurit, Shpirer Zvi, van Bokhoven Hans, Anikster Yair

Abstract excerpt

Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish descent, in which the index patient presented with a persistent scalp skin lesion, dystrophic nails and light thin hair....

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Identifiers

PMID: 26470833
DOI: 10.3109/15513815.2015.1095261

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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