Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR0B1) is a vertebrate-specific orphan nuclear recept...

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Detalles Bibliográficos
Autores principales: Fan, Da-Bei, Li, Li, Zhang, Hao-Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8352982/
https://www.ncbi.nlm.nih.gov/pubmed/34373561
http://dx.doi.org/10.1038/s41598-021-95642-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8352982/
https://www.ncbi.nlm.nih.gov/pubmed/34373561
http://dx.doi.org/10.1038/s41598-021-95642-y

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