{Reference Type}: Journal Article
{Title}: Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review.
{Author}: Jiang L;Jiang C;Song T;Wang Y;Si N;Li H;Yin N;
{Journal}: Cleft Palate Craniofac J
{Volume}: 0
{Issue}: 0
{Year}: 2024 May 8
{Factor}: 1.915
{DOI}: 10.1177/10556656241241132
{Abstract}: 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.