The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant

OBJECTIVE: To analyze the relationship between genotype and phenotype in 21-Hydroxylase deficiency patients harboring P31L variant and the underlying mechanism. METHODS: A total of 29 Chinese patients with 21-OHD harboring P31L variant were recruited, and the detailed clinical features of the patien...

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Detalles Bibliográficos
Autores principales: Zhao, Zhiyuan, Gao, Yinjie, Lu, Lin, Tong, Anli, Chen, Shi, Zhang, Wei, Zhang, Xiaoxia, Sun, Bang, Wu, Xueyan, Mao, Jiangfeng, Wang, Xi, Nie, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972294/
https://www.ncbi.nlm.nih.gov/pubmed/36866166
http://dx.doi.org/10.3389/fendo.2022.1015773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972294/
https://www.ncbi.nlm.nih.gov/pubmed/36866166
http://dx.doi.org/10.3389/fendo.2022.1015773

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