A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation
Author:
Affiliation:
1. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada
2. Department of Neurology, Division of Child Neurology Columbia University Irving Medical Center New York New York City USA
Funder
CHEO Foundation
Genome British Columbia
Genome Alberta
Canadian Institutes of Health Research
Ontario Genomics Institute
Genome Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62549
Reference12 articles.
1. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
2. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
3. FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
4. hnRNP H Is a Component of a Splicing Enhancer Complex That Activates a c- src Alternative Exon in Neuronal Cells
5. Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care
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