Retİnal dystrophy secondary to bardet biedl syndrome: Case report

Basit Öğe Kaydı
dc.contributor.authorAkçay, Betül Ilkay Sezgin
dc.contributor.authorGüney, Esra
dc.contributor.authorÜnlü, Cihan
dc.contributor.authorGencer, Baran
dc.contributor.authorÖzgürhan, Engin Bilge
dc.date.accessioned2025-01-27T19:06:10Z
dc.date.available2025-01-27T19:06:10Z
dc.date.issued2013
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. Major criterias for diagnosis, include retinal dystrophy, obesity, dystrophic extremities, hypogonadism, mental retardation and renal dysfunction. In this study, we aimed to present the clinical manifestations of retinal dystrophy due to Bardet Biedl syndrome in 9 years old and 17 years old siblings.
dc.identifier.endpage126
dc.identifier.issn1307-1173
dc.identifier.issue2
dc.identifier.scopus2-s2.0-84885024948
dc.identifier.scopusqualityN/A
dc.identifier.startpage124
dc.identifier.urihttps://hdl.handle.net/20.500.12428/14168
dc.identifier.volume7
dc.indekslendigikaynakScopus
dc.language.isoen
dc.relation.ispartofAnatolian Journal of Clinical Investigation
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_Scopus_20250125
dc.subjectBardet Biedl syndrome; Retinal dystrophy
dc.titleRetİnal dystrophy secondary to bardet biedl syndrome: Case report
dc.title.alternativeBardet-bİedl sendromuna sekonder gelİşen retİna dİstrofİsİ: Olgu sunumu
dc.typeArticle

Dosyalar

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu