Bardet-Biedl 9 Syndrome, A Rare Mutation

被引：1

作者：

Oliaei, Farshid ^{[1
]}

Narimani, Hossein ^{[2
]}

机构：

[1] Babol Univ Med Sci, Sch Med, Dept Internal Med,Cellular & Mol Biol Res Ctr,Can, Hlth Res Inst,Clin Res Dev Ctr,Shahid Beheshti Ho, Babol Sar, Iran

[2] Babol Univ Med Sci, Student Res Comm, Babol Sar, Iran

来源：

IRANIAN JOURNAL OF KIDNEY DISEASES | 2020年 / 14卷 / 02期

关键词：

bardet-biedl syndrome; renal disease; genotyping;

D O I：

暂无

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：153 / 156

页数：4

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