Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2

CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases. One of the most accessible tools to infer the pathogenicity of ne...

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Detalles Bibliográficos
Autores principales: Prado, Mayara J., Ligabue-Braun, Rodrigo, Zaha, Arnaldo, Rossetti, Maria Lucia Rosa, Pandey, Amit V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
https://www.ncbi.nlm.nih.gov/pubmed/36278220
http://dx.doi.org/10.3389/fphar.2022.931089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
https://www.ncbi.nlm.nih.gov/pubmed/36278220
http://dx.doi.org/10.3389/fphar.2022.931089

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