Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
编码 SNF2 相关 CREBBP 激活蛋白的 SRCAP 基因突变会导致漂浮港综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.12.001
Hood, Rebecca L; Lines, Matthew A; Nikkel, Sarah M; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J M; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L; Quaio, Caio Robledo D C; Gomy, Israel; Bertola, Debora R; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D Ross; Chudley, Albert E; Chodirker, Bernard N; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E; White, Susan M; Boycott, Kym M