title: Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.
abstract: Ectodermal 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.
authors.affiliation: Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.
authors.forename: Jelena
authors.initials: J
authors.lastname: Ruml
authors.affiliation: Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.|Faculty of Medicine, Belgrade University, Belgrade, Serbia.
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.affiliation: Faculty of Medicine, Belgrade University, Belgrade, Serbia.|Department of Neonatal Surgery, University Children's Hospital, Belgrade, Serbia.
authors.forename: Marija
authors.initials: M
authors.lastname: Lukac
authors.affiliation: Institute of Medical and Human Genetics, Charite-Universitaetsmedizin Berlin, Berlin, Germany.
authors.forename: Hartmut
authors.initials: H
authors.lastname: Peters
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics* / Q000601:surgery; D004476:Ectodermal Dysplasia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins