Bardet-Biedl syndrome: A case report
Dermatology Online Journal, cilt.14, sa.1, 2008 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 14 Sayı: 1
- Basım Tarihi: 2008
- Doi Numarası: 10.5070/d31gv4n3k8
- Dergi Adı: Dermatology Online Journal
- Derginin Tarandığı İndeksler: Scopus
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-BBS12). Herein we discussed a patient with BBS who had multiple pigmented nevi. © 2008 Dermatology Online Journal.