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Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China

BACKGROUND: Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ(5)-C(27)-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 and to...

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Detalles Bibliográficos
Autores principales:	Zhao, Jing, Setchell, Kenneth D. R., Gong, Ying, Sun, Yinghua, Zhang, Ping, Heubi, James E., Fang, Lingjuan, Lu, Yi, Xie, Xinbao, Gong, Jingyu, Wang, Jian-She
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8501698/ https://www.ncbi.nlm.nih.gov/pubmed/34627351 http://dx.doi.org/10.1186/s13023-021-02041-7

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