Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
FGFR1基因嵌合激活突变导致脑颅皮肤脂肪瘤病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.02.006
Bennett, James T; Tan, Tiong Yang; Alcantara, Diana; Tétrault, Martine; Timms, Andrew E; Jensen, Dana; Collins, Sarah; Nowaczyk, Malgorzata J M; Lindhurst, Marjorie J; Christensen, Katherine M; Braddock, Stephen R; Brandling-Bennett, Heather; Hennekam, Raoul C M; Chung, Brian; Lehman, Anna; Su, John; Ng, SuYuen; Amor, David J; Majewski, Jacek; Biesecker, Les G; Boycott, Kym M; Dobyns, William B; O'Driscoll, Mark; Moog, Ute; McDonell, Laura M