Condition: Mental Retardation, Autosomal Dominant 1
rs139953766 in
MBD5 gene and
Mental Retardation, Autosomal Dominant 1
PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
PMID 17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.
PMID 23422940 2013 Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
PMID 23587880 2014 Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.