Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience
Lin, Lin, Gu, Wen-Xia, Ozisik, Gokhan, To, Wing S., Owen, Catherine J., Jameson, J. Larry, Achermann, John C.·2006·The Journal of Clinical Endocrinology & Metabolism
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- Additional file 5 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
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- A novel NR0B1 pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosteroneAndressa Rocha Meireles, Juliana Drummond, Ana Paula Abreu, Beatriz Santana Soares · 2026 · JCEM Case Reports
- Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshiftLang Tian, Jie Mei, Xi Zheng, Hong-Mei Dai · 2026 · Human Genomics
- Identification and Functional Characteristics of NR5A1 Gene Variant in Patients with 46,XY Disorders of Sex DevelopmentLin He, Liangzhe Li, Yuxiao Li, Yujun Sun, Zhi Zheng, Chunfang Chu, Shuya Chen, Lin Li · 2026 · Genes