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.