A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
about
A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesMECP2 duplication syndrome in a Chinese family.Sex-Specific Associations between Particulate Matter Exposure and Gene Expression in Independent Discovery and Validation Cohorts of Middle-Aged Men and Women.Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
P2860
A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
description
article
@en
im September 2012 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2012
@uk
name
A novel contiguous gene deleti ...... us and intellectual disability
@en
A novel contiguous gene deleti ...... us and intellectual disability
@nl
type
label
A novel contiguous gene deleti ...... us and intellectual disability
@en
A novel contiguous gene deleti ...... us and intellectual disability
@nl
prefLabel
A novel contiguous gene deleti ...... us and intellectual disability
@en
A novel contiguous gene deleti ...... us and intellectual disability
@nl
P2093
P2860
P356
P1476
A novel contiguous gene deleti ...... us and intellectual disability
@en
P2093
Gemma Poke
Kate Gibson
Lingli Huang
P2860
P304
P356
10.1002/AJMG.A.35591
P407
P50
P577
2012-09-10T00:00:00Z