Identification and characterization of novel compound heterozygous variants in <i>FSHR</i> causing primary ovarian insufficiency with resistant ovary syndrome.

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作者： Xiaopan,Chen ^[1] ; Linjie,Chen ^[2] ; Yang,Wang ^[3] ; Chongyi,Shu ^[2] ; Yier,Zhou ^[4] ; Ruifang,Wu ^[1] ; Bihui,Jin ^[1] ; Leixiang,Yang ^[1] ; Junhui,Sun ^[1] ; Ming,Qi ^[2] ; Jing,Shu ^[5]

作者单位： Reproductive Medicine Center, Department of Reproductive Endocrinology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China. ^[1] Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China. ^[2] School of Laboratory Medicine and Bioengineering, Hangzhou Medical College, Hangzhou, China. ^[3] The Second Clinical Medical School of Wenzhou Medical University, Wenzhou, China. ^[4] Reproductive Medicine Center, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China. ^[5] Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. ^[6]

关键词 compound heterozygous variant follicle-stimulating hormone receptor primary ovarian insufficiency resistant ovary syndrome transmembrane helix

主题词人类(Humans);女(雌)性(Female);原发性卵巢功能不全(Primary Ovarian Insufficiency);受体, FSH(Receptors, FSH);活性氧(Reactive Oxygen Species);基因型(Genotype);不育, 女(雌)性(Infertility, Female)

DOI 10.3389/fendo.2022.1013894

PMID 36704038

发布时间 2023-02-08

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