Article
Identification of a novel ESR1 mutation in a Chinese PCOS woman with estrogen insensitivity in IVF treatment.
Reproductive biology and endocrinology : RB&E - 18 Nov 2022
Liu Faying, Tian Lifeng, Tan Jun, Li Zengming, Qin Haiyan, Xu Dingfei, Huang Zhihui, Wu Xingwu, Chen Ge, Wu Qiongfang, Zou Yang
Abstract excerpt
BACKGROUND: Polycystic ovary syndrome (PCOS) is a complex reproductive disorder, that affects approximately 5-10% of women of reproductive age. The disease is complex because its evolution may be impacted by genetic, lifestyle and environmental factors. Previous studies have emphasized the important roles of estrogen receptors in the pathogenesis of PCOS. OBJECTIVE: To use whole exome sequencing (WES) to assess...
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