De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Mediator复合物的组成部分MED13的新生突变与一种新的神经发育障碍相关。
期刊:Hum Genet
影响因子:3.800
doi:10.1007/s00439-018-1887-y
Lot Snijders Blok ,Susan M Hiatt ,Kevin M Bowling ,Jeremy W Prokop ,Krysta L Engel ,J Nicholas Cochran ,E Martina Bebin ,Emilia K Bijlsma ,Claudia A L Ruivenkamp ,Paulien Terhal ,Marleen E H Simon ,Rosemarie Smith ,Jane A Hurst ,Richard Person ,Amy Crunk ,Michael F Wangler ,Haley Streff ,Joseph D Symonds ,Sameer M Zuberi ,Katherine S Elliott ,Victoria R Sanders ,Abigail Masunga ,Robert J Hopkin ,Holly A Dubbs ,Xilma R Ortiz-Gonzalez ,Rolph Pfundt ,Han G Brunner ,Simon E Fisher ,Tjitske Kleefstra ,Gregory M Cooper
