%0 Journal Article
%T Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review.
%A Jiang L
%A Jiang C
%A Song T
%A Wang Y
%A Si N
%A Li H
%A Yin N
%J Cleft Palate Craniofac J
%V 0
%N 0
%D 2024 May 8
%M 38720594
%F 1.915
%R 10.1177/10556656241241132
%X The TP63 gene is essential for epithelial proliferation, differentiation, and maintenance during embryogenesis. Despite considerable clinical variability, TP63-related symptoms are characterized by ectodermal dysplasia, distal limb malformations, and orofacial clefts. We identified a novel TP63 variant (c.619A > G, p.K207E) in a seven-month-old Chinese patient with orofacial clefts and ectrodactyly but no evident signs of ectodermal dysplasia. This phenotype was rarely reported before. We summarized the presence of the three main TP63-related manifestations in the literature and noted different distributions of CP- and CL/P-related variants regarding p63 structural domains.