Condition: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
rs387906592
in
STAMBPL1;ACTA2
gene and
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
PMID 20734336
2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
PMID 20970362
2011 Analysis of ACTA2 in European Moyamoya disease patients.
PMID 22752479
2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
PMID 22946110
2012 Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.
PMID 22831780
2012 A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
PMID 22302747
2012 R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.