Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation‐Expanding the Phenotypic Spectrum. Issue 3 (10th September 2014)

• Record Type: Journal Article
• Authors: Ruml, Jelena; Cuturilo, Goran; Lukac, Marija; Peters, Hartmut
• Is Part Of: Pediatric dermatology. Volume 32:Issue 3(2015)
• Page Start: 421
• Page End: 422
• Publication Date: 2014-09-10
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12395
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12395-abs-0001"> <title>Abstract</title> <p>Ectodermal dysplasias caused by mutations in the <italic>TP63</italic> 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 <italic>TP63</italic> gene with atypical phenotype. These data provide additional evidence of the great variability seen in <italic>TP63</italic>‐related disorders and further delineation of genotype‐phenotype correlations.</p> </abstract>