An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature

BACKGROUND: Combined 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a very rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. Almost 100 different mutations of the CYP17A1 gene have been reported, including p.R96Q mutation, but no case of p.R96Q mutation h...

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Detalles Bibliográficos
Autores principales: Liao, Qian, Shen, Rufei, Liao, Mingyu, Ran, Chenxi, Zhou, Ling, Zhang, Yuling, Peng, Guiliang, Sun, Zheng, Zheng, Hongting, Long, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627194/
https://www.ncbi.nlm.nih.gov/pubmed/36339422
http://dx.doi.org/10.3389/fendo.2022.989447

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627194/
https://www.ncbi.nlm.nih.gov/pubmed/36339422
http://dx.doi.org/10.3389/fendo.2022.989447

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