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Simplified Gyral Pattern with Cerebellar Hypoplasia in Sedaghatian Type Spondylometaphyseal Dysplasia: A Clinical Report and Review of the Literature

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dc.authorscopusid7004606858
dc.authorscopusid24502908100
dc.authorscopusid8279592300
dc.authorscopusid10440586500
dc.authorscopusid7003539720
dc.authorscopusid55402094800
dc.authorscopusid55402094800
dc.contributor.authorAygün, C.
dc.contributor.authorÇakmak Çelik, F.
dc.contributor.authorNural, M.S.
dc.contributor.authorAzak, E.
dc.contributor.authorKüçüködük, S.
dc.contributor.authorOgǔr, G.
dc.contributor.authorIncesu, L.
dc.date.accessioned2020-06-21T14:27:44Z
dc.date.available2020-06-21T14:27:44Z
dc.date.issued2012
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Aygün] Canan, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Çakmak Çelik] Fatma, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Nural] Mehmet Selim, Department of Radiology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Azak] Emine, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Küçüködük] Şükrü, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Ogǔr] Gönül, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Incesu] Lütfi, Department of Radiology, Ondokuz Mayis Üniversitesi, Samsun, Turkeyen_US
dc.description.abstractWe report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar hypoplasia. We want to emphasize that in this rare congenital lethal skeletal dysplasia with unknown etiology, central nervous system malformations might be a major component of the disorder and should be evaluated in detail to possibly uncover the underlying pathophysiology. © 2012 Wiley Periodicals, Inc.en_US
dc.identifier.doi10.1002/ajmg.a.35306
dc.identifier.endpage1405en_US
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue6en_US
dc.identifier.pmid22529034
dc.identifier.scopus2-s2.0-84861224373
dc.identifier.scopusqualityQ3
dc.identifier.startpage1400en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.35306
dc.identifier.wosWOS:000304133700022
dc.identifier.wosqualityQ3
dc.language.isoenen_US
dc.publisherWiley-Blackwellen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part Aen_US
dc.relation.journalAmerican Journal of Medical Genetics Part Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCerebellar Hypoplasiaen_US
dc.subjectCongenital Atrioventricular Blocken_US
dc.subjectNewbornen_US
dc.subjectSedaghatian Type Spondylometaphyseal Dysplasiaen_US
dc.subjectSimplified Gyral Patternen_US
dc.titleSimplified Gyral Pattern with Cerebellar Hypoplasia in Sedaghatian Type Spondylometaphyseal Dysplasia: A Clinical Report and Review of the Literatureen_US
dc.typeArticleen_US
dspace.entity.typePublication

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