De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

• 期刊名称The American Journal of Human Genetics
• 作者Mao, Dongxue; Reuter, Chloe M.; Ruzhnikov, Maura R.Z.; Beck, Anita E.; Farrow, Emily G.; Emrick, Lisa T.; Rosenfeld, Jill A.; Mackenzie, Katherine M.; Robak, Laurie; Wheeler, Matthew T.; Burrage, Lindsay C.; Jain, Mahim; Liu, Pengfei; Calame, Daniel; Küry, Sébastien; Sillesen, Martin; Schmitz-Abe, Klaus; Tonduti, Davide; Spaccini, Luigina; Iascone, Maria; Genetti, Casie A.; Koenig, Mary K.; Graf, Madeline; Tran, Alyssa; Alejandro, Mercedes; Lee, Brendan H.; Thiffault, Isabelle; Agrawal, Pankaj B.; Bernstein, Jonathan A.; Bellen, Hugo J.; Chao, Hsiao-Tuan; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Allard, Patrick; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Batzli, Gabriel F.; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Berg-Rood, Beverly; Bernier, Raphael; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brokamp, Elly; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabet
• 印刷ISSN0002-9297
• 文件大小1995.75KB
• 发表时间2020-3
• DOI10.1016/j.ajhg.2020.02.016