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

Abstract 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 nucle...

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Bibliographic Details
Main Authors: Da-Bei Fan, Li Li, Hao-Hao Zhang
Format: Article
Language:English
Published: Nature Publishing Group 2021-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-95642-y