Associated Papers
ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.
Rogan S et al.
American Journal of Medical Genetics. Part A, 2026
Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways.
Li S et al.
Pediatric Research, 2025
A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
Javidi E et al.
Ophthalmic Genetics, 2025
A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.
Lu G et al.
Frontiers in Genetics, 2022
35432459 (PubMed )
Supplement: Table2.xlsx › Clinical_phenotypes
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R et al.
American Journal of Human Genetics, 2019
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