2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

BACKGROUND: CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to a...

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Detalles Bibliográficos
Autores principales: Xi, Na, Song, Xiao, Wang, Xue-Yan, Qin, Sheng-Fang, He, Guan-Nan, Sun, Ling-Ling, Chen, Xi-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362542/
https://www.ncbi.nlm.nih.gov/pubmed/34447826
http://dx.doi.org/10.12998/wjcc.v9.i23.6789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362542/
https://www.ncbi.nlm.nih.gov/pubmed/34447826
http://dx.doi.org/10.12998/wjcc.v9.i23.6789

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