- Article
Ocular Phenotype Associated with DYRK1A Variants
- Cécile Méjécase,
- Christopher M. Way,
- Nicholas Owen and
- Mariya Moosajee
Dual-specificity tyrosine phosphorylation-regulated kinase 1A or DYRK1A, contributes to central nervous system development in a dose-sensitive manner. Triallelic DYRK1A is implicated in the neuropathology of Down syndrome, whereas haploinsufficiency...