Article
Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome.
Frontiers in endocrinology - 1 Jan 2022
Chen Xiaopan, Chen Linjie, Wang Yang, Shu Chongyi, Zhou Yier, Wu Ruifang, Jin Bihui, Yang Leixiang, Sun Junhui, Qi Ming, Shu Jing
Abstract excerpt
Primary ovarian insufficiency (POI) is among the foremost causes of women infertility due to premature partial or total loss of ovarian function. Resistant ovary syndrome (ROS) is a subtype of POI manifested as normal ovarian reserve but insensitive to gonadotropin stimulation. Inactivating variants of follicle-stimulating hormone receptor (FSHR), a class A G-protein coupled receptor, have been associated with...
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