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Article

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

European journal of medical genetics - 1 Apr 2024

Soğukpınar Merve, Utine Gülen Eda, Boduroğlu Koray, Şimşek-Kiper Pelin Özlem

Abstract excerpt

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous...

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Identifiers

PMID: 38281558
DOI: 10.1016/j.ejmg.2024.104911

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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