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.