Condition: Cantu syndrome
rs1057516044 in
ABCC9 gene and
Cantu syndrome
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID 26621776 2015 Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
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.