Ocular Phenotype Associated with <i>DYRK1A</i> Variants

Ocular Phenotype Associated with <i>DYRK1A</i> Variants

Dual-specificity tyrosine phosphorylation-regulated kinase 1A or <i>DYRK1A,</i> contributes to central nervous system development in a dose-sensitive manner. Triallelic <i>DYRK1A</i> is implicated in the neuropathology of Down syndrome, whereas haploinsufficiency causes the r...

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Bibliographic Details
Main Authors: Cécile Méjécase, Christopher M. Way, Nicholas Owen, Mariya Moosajee
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
<i>DYRK1A</i>
<i>DYRK1A</i>-related intellectual disability syndrome
mental retardation 7
ocular phenotype
optic nerve hypoplasia
strabismus and refractive error
Online Access:https://www.mdpi.com/2073-4425/12/2/234

Internet

https://www.mdpi.com/2073-4425/12/2/234

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