Ocular Phenotype Associated with DYRK1A Variants

Dual-specificity tyrosine phosphorylation-regulated kinase 1A or contributes to central nervous system development in a dose-sensitive manner. Triallelic is implicated in the neuropathology of Down syndrome, whereas haploinsufficiency causes the rare -related intellectual disability syndrome (also k...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Genes 2021-02, Vol.12 (2), p.234
Hauptverfasser:	Méjécase, Cécile, Way, Christopher M, Owen, Nicholas, Moosajee, Mariya
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Cell cycle Central nervous system Central Nervous System - abnormalities Central Nervous System - growth & development Central Nervous System - metabolism Central Nervous System - pathology Child Child, Preschool Chromosomes Down syndrome Down Syndrome - genetics Down Syndrome - pathology Down's syndrome Dyrk Kinases Eye Eye - pathology Eye Abnormalities - genetics Eye Abnormalities - pathology Female Genomes Genomics Genotype & phenotype Haploinsufficiency Haploinsufficiency - genetics Humans Hypoplasia Infant Intellectual disabilities Intellectual Disability - genetics Intellectual Disability - pathology Male Microencephaly Middle Aged Mutation Optic nerve Optic Nerve - abnormalities Optic Nerve - pathology Optic Nerve Diseases - genetics Optic Nerve Diseases - pathology Patients Phenotypes Phosphorylation Protein Serine-Threonine Kinases - genetics Protein-Tyrosine Kinases - genetics Quality of life Refractive Errors - genetics Refractive Errors - pathology Strabismus Strabismus - genetics Strabismus - pathology Tyrosine Visual impairment
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!