Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/23807
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dc.contributor.authorOzkinay, F-
dc.contributor.authorAtik, T-
dc.contributor.authorIsik, E-
dc.contributor.authorGormez, Z-
dc.contributor.authorSagiroglu, M-
dc.contributor.authorSahin, OA-
dc.contributor.authorÇördük, Nergül-
dc.date.accessioned2019-08-20T06:55:59Z
dc.date.available2019-08-20T06:55:59Z
dc.date.issued2017-
dc.identifier.issn1552-4825-
dc.identifier.urihttps://hdl.handle.net/11499/23807-
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.38173-
dc.description.abstractStromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.en_US
dc.language.isoenen_US
dc.publisherWILEYen_US
dc.relation.ispartofAMERICAN JOURNAL OF MEDICAL GENETICS PART Aen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcentromere protein F; ciliopathy; exome; gene discovery; massivelyen_US
dc.subjectparallel sequencing; microcephaly; Stromme syndromeen_US
dc.titleA further family of Stromme syndrome carrying CENPF mutationen_US
dc.typeArticleen_US
dc.identifier.volume173en_US
dc.identifier.issue6en_US
dc.identifier.startpage1668
dc.identifier.startpage1668en_US
dc.identifier.endpage1672en_US
dc.identifier.doi10.1002/ajmg.a.38173-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid28407396en_US
dc.identifier.scopus2-s2.0-85017523952en_US
dc.identifier.wosWOS:000405288400031en_US
dc.identifier.scopusqualityQ2-
dc.ownerPamukkale University-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.openairetypeArticle-
crisitem.author.dept14.01. Surgical Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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