Two twin sister with cohen syndrome and hirsutism: a case report

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dc.authorscopusidZeynep Ocak / 26637163700
dc.authorwosidZeynep Ocak / DJN-8048-2022
dc.contributor.authorÖzdemir, Filiz
dc.contributor.authorYiğin, Aysel Kalaycı
dc.contributor.authorOcak, Zeynep
dc.contributor.authorSeven, Mehmet
dc.date.accessioned2021-01-25T11:25:23Z
dc.date.available2021-01-25T11:25:23Z
dc.date.issued2020en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractIntroduction: Cohen syndrome is a genetic disease characterized by a rare neurodevelopmental delay, microcephaly and hypotonia. While phenotypic findings may differ among patients, it may appear normal in the neonatal period, as facial features are not evident. The first clinical signs include nutritional difficulties, hypotonia, microcephaly, neuromotor developmental retardation and joint hypermobility. Due to neutropenia, upper respiratory infections and oral aphthae could be observed. The disease has an autosomal recessive inheritance pattern and is caused by mutations in the VPS13B gene.en_US
dc.identifier.endpage911en_US
dc.identifier.issn1018-4813en_US
dc.identifier.issn1476-5438en_US
dc.identifier.issueSUPPL 1en_US
dc.identifier.startpage911en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12713/1369
dc.identifier.volume28en_US
dc.identifier.wosWOS:000598482603238en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorOcak, Zeynep
dc.language.isoenen_US
dc.publisherSPRINGERNATUREen_US
dc.relation.ispartofEUROPEAN JOURNAL OF HUMAN GENETICSen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleTwo twin sister with cohen syndrome and hirsutism: a case reporten_US
dc.typeOtheren_US

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