Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
rs1553722309
in
STAG1
gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
PMID 28119487
2017
STAG1
mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
PMID 30158690
2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.