An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.
Jiayan FanYinwei LiRenbing JiaXianqun FanPublished in: BMC medical genetics (2018)
Our study further identified G338R FGFR2 mutation (c1012G > C) lead to inherited Crouzon syndrome. Thus, early intervention, both medically and surgically, as well as disciplined by a multiple interdisciplinary teams are crucial to the management of this disorder.