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Updated: Jun 28, 2025

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35个新NR5A1/SF-1变种在异性发育个体中鉴定的特征:SF1next研究

Rawda Naamneh Elzenaty1,2,3, Idoia Martinez de Lapiscina1,2,4,5,6,7, Chrysanthi Kouri1,2,3

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

The Journal of clinical endocrinology and metabolism
|April 16, 2024
PubMed
概括

在具有性别发育差异 (DSD) 的个体中,研究了类固醇原因子1 (NR5A1/SF-1) 的新型遗传变异. 功能性测试无法完全解释广泛的表型,这表明涉及多个基因的寡原性机制.

关键词:
广泛的表型 现型 广泛的表型性发展的差异 (DSD)基因型-表型相关性相关性类固醇发生因子1 (SF-1/NR5A1)

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