De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
一名患有自闭症谱系障碍、间歇性疲劳和嗜睡以及穆克尔-韦尔斯综合征的儿童,携带新生ATP1A3突变和NLRP3复合杂合突变。
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2018.06.001
Torres, Alcy; Brownstein, Catherine A; Tembulkar, Sahil K; Graber, Kelsey; Genetti, Casie; Kleiman, Robin J; Sweadner, Kathleen J; Mavros, Chrystal; Liu, Kevin X; Smedemark-Margulies, Niklas; Maski, Kiran; Yang, Edward; Agrawal, Pankaj B; Shi, Jiahai; Beggs, Alan H; D'Angelo, Eugene; Lincoln, Sarah Hope; Carroll, Devon; Dedeoglu, Fatma; Gahl, William A; Biggs, Catherine M; Swoboda, Kathryn J; Berry, Gerard T; Gonzalez-Heydrich, Joseph