Publication
A novel FBXO28
frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype
Chris Balak, Newell Belnap, Keri Ramsey, Shelagh Joss, Koen Devriendt, Marcus Naymik, Wayne Jepsen, Ashley L. Siniard, Szabolcs Szelinger, Mary E. Parker, Ryan Richholt, Tyler Izatt, Madison LaFleur, Panieh Terraf, Lorida Llaci, Matt De Both, Ignazio S. Piras, Sampathkumar Rangasamy, Isabelle Schrauwen, David W. Craig, Matt Huentelman, Vinodh Narayanan
American Journal of Medical Genetics Part A, July 2018, Wiley
DOI: 10.1002/ajmg.a.38712