Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53


rs1554121872 in CAMK2A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID 28130356 2017 A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

PMID 29560374 2018 De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.