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Article

Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation.

American journal of medical genetics. Part A - 1 Jan 2012

Kantaputra Piranit N, Matangkasombut Oranart, Sripathomsawat Warissara

Abstract excerpt

We report on a mother and son who were affected with split hand-split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow-growing. Scanning electron micrography of their scalp hair showed hypoplastic hair bulbs, partial loss of hair cuticles, and frayed hair shafts. The son was affected with amelogenesis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22065540
DOI: 10.1002/ajmg.a.34356

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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