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A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of NR0B1 (DAX1) and Contiguous Gene.

Annals of clinical and laboratory science - 1 Jul 2023

Shin Chungwoo, Kim Sung Eun, Moon Cheong Jun, Yoo Il Han, Yim Jisook, Cho Won-Kyong, Kim Myungshin, Lee Jung Hyun

Abstract excerpt

X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven...

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PMID: 37625843

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