Bardet-Biedl 9 Syndrome, A Rare Mutation

Authors

  • Farshid Oliaei Department of Internal Medicine, School of Medicine, Babol University of Medical Sciences, Babol, Iran Author
  • Hossein Narimani 2Student Research Committee, Babol University of Medical Science, Babol, Iran Author

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.

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Author Biographies

  • Farshid Oliaei, Department of Internal Medicine, School of Medicine, Babol University of Medical Sciences, Babol, Iran

    ·         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, I.R.Iran

  • Hossein Narimani, 2Student Research Committee, Babol University of Medical Science, Babol, Iran

    Student Research Committee, Babol University of Medical Science, Babol, Iran.

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Published

2020-03-05

Issue

Vol. 14 No. 2 (2020): March

Section

CASE REPORT | Kidney Diseases

How to Cite

Bardet-Biedl 9 Syndrome, A Rare Mutation. (2020). Iranian Journal of Kidney Diseases, 14(2), 157-159. https://ijkd.org/index.php/ijkd/article/view/4587

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