Article
A novel heterozygous intron mutation in SEMA7A causing kallmann syndrome in a female.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Mar 2020
Zhao Yongting, Yang Fan, Qiu Lili, Wang Lihong, Che Hui
Abstract excerpt
Kallmann syndrome (KS) is a rare inherited disorder, which has significantly genotypic and phenotypic heterogeneity. KS is clinically characterized by the combination of hypogonadotropic hypogonadism and hypo/anosmia. At present, there is no relevant report that intron mutation in SEMA7A gene helps induce KS. A 17-year-old Chinese female (46, XX) came to our department due to primary amenorrhea, who actually had...
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