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Updated: Jun 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在NR5A1/SF-1中对罕见编码变体的基于人口的研究

Chrysanthi Kouri1,2,3, Raina Y Jia4, Katherine A Kentistou4

  • 1Department of Pediatrics, Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.

Journal of the Endocrine Society
|October 31, 2024
PubMed
概括

罕见的,有害的类固醇原因子1 (SF-1/NR5A1) 变体与更年期更早和肥胖风险增加有关,特别是在女性中. 这凸显了这些变体在罕见的发育障碍之外的更广泛影响.

关键词:
英国生物银行 (UKBB)性发展的差异 (DSD)肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖类固醇发生因子1 (SF-1/NR5A1)整体外基因组测序 (WES) 测序

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