De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

• 期刊名称The American Journal of Human Genetics
• 作者Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C.; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F.; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany N.; Hopkin, Robert J.; Trimouille, Aurélien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Genevieve, David; Argilli, Emanuela; Sherr, Elliott H.; Severino, Mariasavina; Rouleau, Guy A.; Yam, Patricia T.; Charron, Frédéric; Srour, Myriam; Acosta, Maria T.; Adams, David R.; Agrawal, Pankaj; Alejandro, Mercedes E.; Allard, Patrick; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Barbouth, Deborah; Batzli, Gabriel F.; Bayrak-Toydemir, Pinar; Beggs, Alan H.; Bejerano, Gill; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Botto, Lorenzo; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; 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.; D’Souza, Precilla; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.;
• 卷第105卷
• 期第4期
• 印刷ISSN0002-9297
• 文件大小1717.75KB
• 发表时间2019-10
• DOI10.1016/j.ajhg.2019.09.005
• 页码854-868