Article
The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty.
American journal of medical genetics. Part A - 1 Apr 2024
Chen Ziwei, You Qing, Wang Junqi, Dong Zhiya, Wang Wei, Yang Yuanyan, Ma Xiaoyu, Li Chuanyin, Lu Wenli
Abstract excerpt
Central precocious puberty (CPP) refers to a syndrome of early puberty initiation with a characteristic increase in the release of gonadotropin-releasing hormone (GnRH); therefore, it is also called GnRH-related precocious puberty. About a quarter of idiopathic central precocious puberty (ICPP) may be familial. Studies suggest that mutations of makorin ring finger protein 3 (MKRN3) can cause familial central...
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