Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
PIK3C2A基因突变会导致综合征性矮小症、骨骼异常以及与睫状功能障碍相关的白内障。
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1008088
Tiosano, Dov; Baris, Hagit N; Chen, Anlu; Hitzert, Marrit M; Schueler, Markus; Gulluni, Federico; Wiesener, Antje; Bergua, Antonio; Mory, Adi; Copeland, Brett; Gleeson, Joseph G; Rump, Patrick; van Meer, Hester; Sival, Deborah A; Haucke, Volker; Kriwinsky, Josh; Knaup, Karl X; Reis, André; Hauer, Nadine N; Hirsch, Emilio; Roepman, Ronald; Pfundt, Rolph; Thiel, Christian T; Wiesener, Michael S; Aslanyan, Mariam G; Buchner, David A