Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

INTRODUCTION: 21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations. METHODS: A total of 15 individuals from three unr...

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Detalles Bibliográficos
Autores principales: Tang, Peng, Zhang, Jun, Peng, Song, Wang, Yapeng, Li, Haoyang, Wang, Ze, Zhang, Yao, Huang, Yiqiang, Xu, Jing, Zhang, Dianzheng, Liu, Qiuli, Wang, Luofu, Lan, Weihua, Jiang, Jun
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/PMC10042299/
https://www.ncbi.nlm.nih.gov/pubmed/36992809
http://dx.doi.org/10.3389/fendo.2023.1095719

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042299/
https://www.ncbi.nlm.nih.gov/pubmed/36992809
http://dx.doi.org/10.3389/fendo.2023.1095719

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