title: Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
abstract: Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Gawrych
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Bińczak-Kuleta
authors.forename: Joanna
authors.initials: J
authors.lastname: Janiszewska-Olszowska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Ciechanowicz
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins