A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1
Author:
Funder
National Institute of Neurological Disorders and Stroke
Howard Hughes Medical Institute
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/160309/files/pdf
Reference50 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. A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation
4. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
5. Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
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