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Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism
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作者 Xiao-Bin Wang Ping Chen +3 位作者 Xue-Er Yu Zu-Liang Yao Ting-Chao Guo Bo-Chen Pan 《Asian Journal of Andrology》 SCIE CAS CSCD 2024年第1期120-122,共3页
DearEditor,Congenital hypogonadotropic hypogonadism(CHH)is a rare genetic disease characterized by gonadotropin-releasing hormone(GnRH)deficiency or insufficiency and normal hypothalamic-pituitary structures,resulting... DearEditor,Congenital hypogonadotropic hypogonadism(CHH)is a rare genetic disease characterized by gonadotropin-releasing hormone(GnRH)deficiency or insufficiency and normal hypothalamic-pituitary structures,resulting in defective sexual maturation or/and infertility.!CHH presents as a variety of nonreproductive phenotypes,such as renal hypoplasia,dental hypoplasia,or oculomotor abnormalities. 展开更多
关键词 pogon COMPOUND ISM
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