Article
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.
Clinical genetics - 1 Apr 2015
Guazzarotti L, Tadini G, Mancini G E, Giglio S, Willoughby C E, Callea M, Sani I, Nannini P, Mameli C, Tenconi A A, Mauri S, Bottero A, Caimi A, Morelli M, Zuccotti G V
Abstract excerpt
Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.