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

Jing ZhaoKenneth D R SetchellYing GongYinghua SunPing ZhangJames E HeubiLingjuan FangYi LuXinbao XieJingyu GongJian-She Wang

Published in: Orphanet journal of rare diseases (2021)

In what is the largest cohort of patients with HSD3B7 deficiency thus far studied, renal lesions were a notable clinical feature of HSD3B7 deficiency and these were resolved with suppression of atypical bile acids by oral CDCA administration.

Keyphrases

replacement therapy
machine learning
genome wide
deep learning
gene expression
dna methylation
solid state