Condition: CARDIOMYOPATHY, DILATED, 1O
rs387907209
in
ABCC9
gene and
CARDIOMYOPATHY, DILATED, 1O
PMID 26871653
2017 De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
PMID 22610116
2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.
PMID 22608503
2012 Cantú syndrome is caused by mutations in ABCC9.
PMID 23307537
2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
PMID 25590979
2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
rs72559751
in
ABCC9;LOC105369689
gene and
CARDIOMYOPATHY, DILATED, 1O
PMID 15034580
2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.