Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-14. In the Western countries, the prevalence of this d...

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Dades bibliogràfiques
Autors principals: Hirano, Makito, Ohishi, Mitsuru, Yamashita, Toshihide, Ikuno, Yasushi, Iwahashi, Hiromi, Mano, Toshiyuki, Ishihara, Ryu, Tanaka, Ichiro, Yanagihara, Keiko, Isono, Chiharu, Sakamoto, Hikaru, Nakamura, Yusaku, Kusunoki, Susumu
Format: Artigo
Idioma:Inglês
Publicat: Libertas Academica 2011
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3096431/
https://ncbi.nlm.nih.gov/pubmed/21769262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4137/CCRep.S6622
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