학술논문
Bardet-Biedl 9 Syndrome, A Rare Mutation.
Document Type
Article
Author
Source
Subject
*LAURENCE-Moon-Biedl syndrome
*KIDNEY failure
*CILIA & ciliary motion
*KIDNEY diseases
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Language
ISSN
1735-8582
Abstract
Bardet- biedl syndrome (BBS) is a rare heterogenous autosomal recessive disease due to defects in primary cilia which until now, up to 21 types have been detected. A few reports of BBS in Iran have been published but this is the first type 9 genotyped and clinically discussed case. This type can cause severe and delayed onset renal failure. [ABSTRACT FROM AUTHOR]