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The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation

AIM: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to 21-hydroxylase deficiency resulting from mutations in CYP21A2 gene. The present study aimed to identify CYP21A2 common gene mutations, phenotype co...

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Detalles Bibliográficos
Autores principales:	Sridhar, Subbiah, Govindhan, Ramajayam, Soundian, Balasankar, Poomarimuthu, Maheshkumar, Nallan, Karuppasamy, Kumar, Santhanakrishnan Ramesh, Eagappan, Subbiah, Natarajan, Vasanthiy, Jayaraman, Sangumani
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959200/ https://www.ncbi.nlm.nih.gov/pubmed/35355919 http://dx.doi.org/10.4103/ijem.ijem_442_21

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