Condition: BARAITSER-WINTER SYNDROME 2
rs11549190
in
ACTG1;FSCN2
gene and
BARAITSER-WINTER SYNDROME 2
PMID 25052316
2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
PMID 22366783
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
rs281875327
in
FSCN2;ACTG1
gene and
BARAITSER-WINTER SYNDROME 2
PMID 22366783
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.