Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism

Nuclear receptor subfamily 0 group B member 1 gene (NR0B1) encodes an orphan nuclear receptor that plays a critical role in the development and regulation of the adrenal gland and hypothalamic–pituitary–gonadal axis. In this study, we report a novel mutation in NR0B1 that led to adult-onset adrenal...

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Detalles Bibliográficos
Autores principales: Zhu, Feng, Zhou, Min, Deng, Xiuling, Li, Yujuan, Xiong, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243302/
https://www.ncbi.nlm.nih.gov/pubmed/35784540
http://dx.doi.org/10.3389/fendo.2022.897069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243302/
https://www.ncbi.nlm.nih.gov/pubmed/35784540
http://dx.doi.org/10.3389/fendo.2022.897069

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