Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
rs863225079
in
PPP2R5D;MEA1
gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
PMID 26168268
2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
PMID 25533962
2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 25972378
2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.