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Angelman syndrome: clinical findings and follow-up data of 14 patients

dc.contributor.authorBasaran, Seher
dc.contributor.authorOzmen, Meral
dc.contributor.authorKara, Buelent
dc.contributor.authorRosti, Rasim Ozguer
dc.contributor.authorCaliskan, Mine
dc.contributor.authorKayserili, Huelya
dc.contributor.authorKaraman, Birsen
dc.date.accessioned2021-03-03T09:23:45Z
dc.date.available2021-03-03T09:23:45Z
dc.date.issued2008
dc.identifier.citationKara B., Karaman B., Ozmen M., Rosti R. O. , Caliskan M., Kayserili H., Basaran S., "Angelman syndrome: clinical findings and follow-up data of 14 patients", TURKISH JOURNAL OF PEDIATRICS, cilt.50, sa.2, ss.137-142, 2008
dc.identifier.issn0041-4301
dc.identifier.othervv_1032021
dc.identifier.otherav_1cbf0cc6-65ef-4996-9d55-55c7f20e7d76
dc.identifier.urihttp://hdl.handle.net/20.500.12627/24554
dc.description.abstractThe diagnosis of Angelman syndrome (AS) is based on the clinical features, behavior, EEG findings, and genetic abnormalities. The physical, clinical and behavioral aspects appear to attributable to localized central nervous system (CNS) dysfunction of the ubiquitin ligase gene, UBE3A, located at 15q11.2. The features of AS frequently become apparent at 1-4 years of age, and the average age at diagnosis is 6 years.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.titleAngelman syndrome: clinical findings and follow-up data of 14 patients
dc.typeMakale
dc.relation.journalTURKISH JOURNAL OF PEDIATRICS
dc.contributor.departmentKocaeli Üniversitesi , ,
dc.identifier.volume50
dc.identifier.issue2
dc.identifier.startpage137
dc.identifier.endpage142
dc.contributor.firstauthorID12661


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