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Updated: Jun 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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一个小说NR5A1突变在一个泰国男孩有46,XY DSD

Suttipong Wacharasindhu1, Chupong Ittiwut2, Rungnapa Ittiwut3,4

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Journal of pediatric genetics
|August 1, 2024
PubMed
概括

一种新的NR5A1基因变异在泰国婴儿身上引起了46,XY性发育障碍 (DSD). 用的治疗改善了外部生殖器的生长,上腺功能正常,这种变体是从他的母亲那里继承的.

关键词:
在NR5A1中,性发育障碍 性发育障碍突变是一种突变.小说小说小说小说小说

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