Okur, MesutEröz, RecepMundlos, StefanŞenses, Dursun AliÜlgen, E.İsmailler, Z.B.Özçelik, Derya2020-05-012020-05-0120121015-8146https://hdl.handle.net/20.500.12684/5670WOS: 000208958600007PubMed: 23431748EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: a case report: EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip 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/closedAccessEEC syndromeEctodermal dysplasiaEctrodactylyCleftingArticle234483485N/A