17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports

BACKGROUND: p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals. However, data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking. This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-...

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Detalles Bibliográficos
Autores principales: Zhang, Dai, Sun, Jian-Ran, Xu, Jiang, Xing, Yan, Zheng, Mao, Ye, Shan-Dong, Zhu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953410/
https://www.ncbi.nlm.nih.gov/pubmed/33748243
http://dx.doi.org/10.12998/wjcc.v9.i8.1923

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953410/
https://www.ncbi.nlm.nih.gov/pubmed/33748243
http://dx.doi.org/10.12998/wjcc.v9.i8.1923

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