Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways
Pediatr Res. 2025 Dec 7. doi: 10.1038/s41390-025-04612-x. Online ahead of print. ABSTRACT BACKGROUND: Mutations in the ZMIZ1 gene have been implicated in neurodevelopmental disorder with …