Title of article
Bardet-Biedl 9 Syndrome, A Rare Mutation
Author/Authors
Oliaei, Farshid Cellular and Molecular Biology Research Center - Cancer Research Center - Health Research Institute, Clinical Research Development Center, Shahid Beheshti Hospital - Department of Internal Medicine - School of Medicine - Babol University of Medical Sciences - Babol, Iran , Narimani, Hossein 2Student Research Committee - Babol University of Medical Science - Babol, Iran
Pages
4
From page
153
To page
156
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
Keywords
genotyping , renal disease , bardet-biedl syndrome
Journal title
Astroparticle Physics
Serial Year
2020
Record number
2488280
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