RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Carpenter综合征中的RAB23基因突变提示Hedgehog信号通路在颅缝发育和肥胖中发挥着意想不到的作用。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/518047
Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S; Perlyn, Chad A; Alonso, Luis G; Bueno, Daniela F; Donnai, Dian; Josifova, Dragana; Mathijssen, Irene M J; Morton, Jenny E V; Orstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A; Marsh, Jeffrey L; Nurnberg, Peter; Passos-Bueno, Maria Rita; Wilkie, Andrew O M