Okur, MesutEröz, RecepMundlos, StefanŞenses, Dursun AliÜlgen, E.İsmailler, Z.B.Özçelik, Derya2020-04-302020-04-3020121015-8146https://hdl.handle.net/20.500.12684/251PubMed ID: 23431748EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft Hp and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G>A) on exon 7 of p63 gene is presented.eninfo:eu-repo/semantics/closedAccessClefting; Ectodermal dysplasia; Ectrodactyly; EEC syndromeArticle234483485N/A