The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

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dc.contributor.authorBilgüvar, Kaya
dc.contributor.authorÖztürk, Ali Kemal
dc.contributor.authorBayraklı, Fatih
dc.contributor.authorGüzel, Aslan
dc.contributor.authorDiLuna, Michael L.
dc.contributor.authorBayri, Yaşar
dc.contributor.authorTatlı, Mehmet
dc.contributor.authorTekeş, Selahattin
dc.contributor.orcid0000-0003-1707-6055
dc.date.accessioned2024-04-24T15:59:18Z
dc.date.available2024-04-24T15:59:18Z
dc.date.issued2009
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Beyin ve Sinir Cerrahisi Ana Bilim Dalıen_US
dc.description.abstractRecently, we delineated a syndrome of pachygyria, mentalimpairment, seizures, and arachnoid cysts [Guzel et al., 2007].This syndrome was found in a consanguineous family fromSoutheastern Turkey. The three affected sibs in this family werethe first generation to present with this condition, strongly suggest-ing autosomal recessive inheritance.en_US
dc.identifier.citationBilgüvar, K., Öztürk, A. K., Bayraklı, F., Güzel, A., DiLuna, M. L., Bayri, Y. ve diğerleri. (2009). The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal of Medical Genetics, Part A, 149(11), 2569-2572.
dc.identifier.doi10.1002/ajmg.a.33063
dc.identifier.endpage2572en_US
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue11en_US
dc.identifier.pmid19876906
dc.identifier.scopus2-s2.0-70449377346
dc.identifier.scopusqualityQ3
dc.identifier.startpage2569en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.33063
dc.identifier.urihttps://hdl.handle.net/11468/13951
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.33063
dc.identifier.volume149Aen_US
dc.identifier.wosWOS:000271587600038
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorGüzel, Aslan
dc.institutionauthorTatlı, Mehmet
dc.institutionauthorTekeş, Selahattin
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part A
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject[No Keyword]en_US
dc.titleThe syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15en_US
dc.titleThe syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
dc.typeLetteren_US

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