Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China

Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China

Abstract Background Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal of this study was to obtain detailed information on the correlation between the genotype and phenotype of HSD3B7 deficiency an...

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Bibliographic Details
Main Authors: Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong, Jian-She Wang
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Bile acid synthesis
Chenodeoxycholic acid
Genetic spectrum
HSD3B7
Renal lesions
3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency
Online Access:https://doi.org/10.1186/s13023-021-02041-7

Internet

https://doi.org/10.1186/s13023-021-02041-7

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