Genetic insights into the 'sandwich fusion' subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.

Autor: Xu, Nanfang1,2,3 (AUTHOR), Hung, Kan-Lin1,2,3 (AUTHOR), Gong, Xiaoli4 (AUTHOR), Fan, Dongwei1,2,3 (AUTHOR), Tian, Yinglun1,2,3 (AUTHOR), Yan, Ming1,2,3 (AUTHOR), Wei, Yuan4 (AUTHOR) weiyuanbysy@163.com, Wang, Shenglin1,2,3 (AUTHOR) pkuwsl@126.com
Zdroj: Orphanet Journal of Rare Diseases. 4/1/2024, Vol. 19 Issue 1, p1-15. 15p.
Databáze: Academic Search Ultimate
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