Associated Papers
Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Li Q et al.
Frontiers in Pharmacology, 2024
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 2022
The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.
Jankovic M et al.
International Journal of Molecular Sciences, 2022
ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature.
Yang WX et al.
World Journal of Clinical Cases, 2021
Refractory cerebral infarction in a child with an ACTA2 mutation.
Kanamori K et al.
Brain & Development, 2021
Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature.
Chen SN et al.
World Journal of Clinical Cases, 2019
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Regalado ES et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.
Cuoco JA et al.
Cerebrovascular Diseases (basel, Switzerland), 2018
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Logeswaran T et al.
American Journal of Medical Genetics. Part A, 2017
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.
de Grazia J et al.
Brain & Development, 2017
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
Regalado ES et al.
Circulation. Cardiovascular Genetics, 2015
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.
Moller HU et al.
The British Journal of Ophthalmology, 2012
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
Munot P et al.
Brain : a Journal of Neurology, 2012