Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Objective: To explore the correlation between different CYP21A2 pathogenic gene mutations and clinical phenotypes in Congenital adrenal hyperplasia (CAH) patients. Moreover, combined with the specific phenotypes of patients in the clinic, diagnosis and treatment suggestions should be made for CAH pa...

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Bibliographic Details
Main Authors: Yanru Hou, Yian Li, Jiajia Ai, Li Tian
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
CAH
NCCAH
CYP21A2
Pathogenic gene mutation
Genotype
Phenotype
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024030731

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http://www.sciencedirect.com/science/article/pii/S2405844024030731

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