Retİnal dystrophy secondary to bardet biedl syndrome: Case report
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Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Bardet 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.
Açıklama
Anahtar Kelimeler
Bardet Biedl syndrome; Retinal dystrophy
Kaynak
Anatolian Journal of Clinical Investigation
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
7
Sayı
2