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Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review

Adrenal hypoplasia congenita (AHC) is a rare X-linked recessive disease caused by mutations in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene, which is also referred to as dosage-sensitive sex-reversal, adrenal hypoplasia congenita, in the critical region of the X chromosome, gene...

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Detalles Bibliográficos
Autores principales: Wang, Yuhan, Liu, Xiufen, Xie, Xiaona, He, Jingjing, Gao, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468782/
https://www.ncbi.nlm.nih.gov/pubmed/36160878
http://dx.doi.org/10.3892/etm.2022.11565