Greig cephalopolysyndactyly syndrome: A family report

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dc.contributor.authorAlp, H.
dc.contributor.authorAlp, E.
dc.contributor.authorÇimen, Derya
dc.contributor.authorOran, B.
dc.date.accessioned2020-03-26T18:06:06Z
dc.date.available2020-03-26T18:06:06Z
dc.date.issued2010
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractGreig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant condition characterized by distinct combination of craniofacial, hand and food malformations. It is caused by mutations of the gene GLI3, located on 7p13. The clinical features consistent with GCPS are typical craniofacial findings, post or preaxial polysyndactyly of the hands and feet. In this report we describe clinical and radiological findings of a Turkish family in which five members of three generations could be examined. Dysgenesis of the corpus callosum is diagnosed in one of the patients. A rare clinical manifestation, pectus excavatum, is also seen in two of the cases. Copyright © 2010 by Türkiye Klinikleri.en_US
dc.identifier.endpage79en_US
dc.identifier.issn1300-0381en_US
dc.identifier.issue1en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage74en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/25625
dc.identifier.volume19en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofTurkiye Klinikleri Pediatrien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectFunnel chesten_US
dc.subjectGLI3 protein, humanen_US
dc.subjectPolydactylyen_US
dc.subjectSyndactylyen_US
dc.titleGreig cephalopolysyndactyly syndrome: A family reporten_US
dc.typeArticleen_US

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