Article
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 - 1 Jul 2018
Balak Chris, Belnap Newell, Ramsey Keri, Joss Shelagh, Devriendt Koen, Naymik Marcus, Jepsen Wayne, Siniard Ashley L, Szelinger Szabolcs, Parker Mary E, Richholt Ryan, Izatt Tyler, LaFleur Madison, Terraf Panieh, Llaci Lorida, De Both Matt, Piras Ignazio S, Rangasamy Sampathkumar, Schrauwen Isabelle, Craig David W, Huentelman Matt, Narayanan Vinodh
Abstract excerpt
Chromosome 1q41-q42 deletions have recently been associated with a recognizable neurodevelopmental syndrome of early childhood (OMIM 612530). Within this group, a predominant phenotype of developmental delay (DD), intellectual disability (ID), epilepsy, distinct dysmorphology, and brain anomalies on magnetic resonance imaging/computed tomography has emerged. Previous reports of patients with de novo deletions at...
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