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
Link To Document :
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