International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Archive

 Open Access DOI:10.23937/2643-4571/1710063

Single-Cell Transcriptomic Analysis of Human Spinal Cords Elucidates Cell-Type-Specific Pathomechanisms in HNRNPH2-Related Neurodevelopmental Disorder

David H. Lee

Article Type: Research Article | Indexed Archive: Volume 8

HNRNPH2-Related Neurodevelopmental Disorder (HNRNPH2-RNDD) is an ultra-rare, X-linked condition characterized by motor impairments, intellectual disability, and global developmental delay. HNRNPH2 is a ubiquitously expressed protein, and the mechanism by which its mutations cause profound neurodevelopmental and motor dysfunction remains unclear....

Volume 8
Issue 1