Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.
Qiao HouJiayu WuYaguang ZhaoXinying WangFang JiangDan-Na ChenRuizhi ZhengMeichao MenJia-Da LiPublished in: European journal of endocrinology (2020)
Our results broaden the genotypic spectrum of CCDC141 in CHH, as CCDC141 RSVs alone do not appear sufficient to cause CHH. The phenotypic spectrum in patients with CCDC141 RSVs is much wider than originally believed.