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

American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1549-1558, July 2018.

Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: ChrisBalak , NewellBelnap , KeriRamsey , ShelaghJoss , KoenDevriendt , MarcusNaymik , WayneJepsen , Ashley L.Siniard , SzabolcsSzelinger , Mary E.Parker , RyanRichholt , TylerIzatt , MadisonLaFleur , PaniehTerraf , Source Type: research