Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

BACKGROUND: Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationshi...

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Detalles Bibliográficos
Autores principales: Chi, Dung V., Tran, Thinh H., Nguyen, Duc H., Luong, Long H., Le, Phuong T., Ta, Minh H., Ngo, Huong T. T., Nguyen, Mai P., Le‐Anh, Tuan P., Nguyen, Dat P., Bui, The‐Hung, Ta, Van T., Tran, Van K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503067/
https://www.ncbi.nlm.nih.gov/pubmed/30816000
http://dx.doi.org/10.1002/mgg3.623

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