• Media type: E-Article
  • Title: De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
  • Contributor: Tokita, Mari J.; Braxton, Alicia A.; Shao, Yunru; Lewis, Andrea M.; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S.; Melver, Catherine Ward; Robin, Nathaniel H.; Infante, Elena M.; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O.; McLean, Scott D.; Bi, Weimin; Bacino, Carlos A.; Lalani, Seema R.; Scott, Daryl A.; Eng, Christine M.; [...]
  • imprint: Elsevier BV, 2016
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2016.06.035
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access