Ectodermal defects and anal atresia in a child with a TP63 mutation-expanding the phenotypic spectrum

Ruml, Jelena (57508133200)Jelena (57508133200)RumlCuturilo, Goran (23469119900)Goran (23469119900)CuturiloLukac, Marija (7003769857)Marija (7003769857)LukacPeters, Hartmut (56276787700)Hartmut (56276787700)Peters2025-06-122025-06-122015https://doi.org/10.1111/pde.12395https://www.scopus.com/inward/record.uri?eid=2-s2.0-84929689162&doi=10.1111%2fpde.12395&partnerID=40&md5=a76a8c0000147c12a6a112deabd4b068https://remedy.med.bg.ac.rs/handle/123456789/8233Ectodermal dysplasias caused by mutations in the TP63 gene comprise a group of disorders characterized by a spectrum of ectodermal changes, orofacial clefting, and split hand or foot malformation. We report on a boy with a mutation located in the DNA-binding domain of the TP63 gene with atypical phenotype. These data provide additional evidence of the great variability seen in TP63-related disorders and further delineation of genotype-phenotype correlations. © 2014 Wiley Periodicals, Inc.Ectodermal defects and anal atresia in a child with a TP63 mutation-expanding the phenotypic spectrum