Article
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Neurogenetics - 1 Jul 2016
Steinfeld Hallie, Cho Megan T, Retterer Kyle, Person Rick, Schaefer G Bradley, Danylchuk Noelle, Malik Saleem, Wechsler Stephanie Burns, Wheeler Patricia G, van Gassen Koen L I, Terhal P A, Verhoeven Virginie J M, van Slegtenhorst Marjon A, Monaghan Kristin G, Henderson Lindsay B, Chung Wendy K
Abstract excerpt
Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription...
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