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Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
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 like...
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Published in: | Neurogenetics 2016-07, Vol.17 (3), p.159-164 |
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Main Authors: | , , , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | 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 factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in
HIVEP2
lead to intellectual disabilities and developmental delay. |
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ISSN: | 1364-6745 1364-6753 |
DOI: | 10.1007/s10048-016-0479-z |