EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: A case report

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dc.contributor.authorOkur, Mesut
dc.contributor.authorEröz, Recep
dc.contributor.authorMundlos, Stefan
dc.contributor.authorŞenses, Dursun Ali
dc.contributor.authorÜlgen, E.
dc.contributor.authorİsmailler, Z.B.
dc.contributor.authorÖzçelik, Derya
dc.date.accessioned2020-04-30T13:32:21Z
dc.date.available2020-04-30T13:32:21Z
dc.date.issued2012
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionPubMed ID: 23431748en_US
dc.description.abstractEEC 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.en_US
dc.identifier.endpage485en_US
dc.identifier.issn1015-8146
dc.identifier.issue4en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage483en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/251
dc.identifier.volume23en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectClefting; Ectodermal dysplasia; Ectrodactyly; EEC syndromeen_US
dc.titleEEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: A case reporten_US
dc.typeArticleen_US

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