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Novel FSHR mutations causing primary ovarian insufficiency with resistant ovary syndrome

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NIAID Data Ecosystem2026-03-12 收录
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA687912
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Primary ovarian insufficiency (POI) is one of the leading causes of female infertility due to the partial or total loss of ovarian function prematurely. Resistant ovary syndrome (ROS) is a subtype of POI manifested as normal ovarian reserve and insensitive to gonadotropins stimulation. In this study, we sought the genetic causes of a primary infertility patient manifested as POI with ROS, and elucidated the structural and functional impacts of variants with uncertain significance.
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2020-12-26
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