De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Conference Paper uri icon

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authors

  • Gordon, CT
  • Mak, C
  • Doherty, D
  • Lin, A
  • Vegas, N
  • Cho, M
  • Viot, G
  • Dimartino, C
  • Weisfeld-Adams, J
  • Lessel, D
  • Joss, S
  • Li, Chumei
  • Gonzaga-Jauregui, C
  • Zarate, Y
  • Horn, D
  • Troyer, C
  • Kant, S
  • Leung, G
  • Barone, A
  • Yang, S
  • Bend, E
  • Roadhouse, C
  • Zahir, F
  • Stolerman, E
  • Bienvenu, T
  • Orenstein, N
  • Dobyns, W
  • Shieh, J
  • Waggoner, D
  • Gripp, K
  • Parker, M
  • Stoler, J
  • Lyonnet, S
  • Cormier-Daire, V
  • Viskochil, D
  • Hoffman, T
  • Amiel, J
  • Chung, B

publication date

  • October 1, 2019