Article
A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
Ophthalmic genetics - 1 Feb 2025
Javidi Eileen, Javidi Simon, Antaki Fares, Campeau Philippe M, Ospina Luis H
Abstract excerpt
INTRODUCTION: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to ZMIZ1 genetic variants. We present a novel ZMIZ1 variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward...
Topics
- Child, Preschool
- Humans
- Male
- Abnormalities, Multiple
- Blepharoptosis
- Mutation
- Phenotype
- Transcription Factors