| [1] |
Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction[J]. Am J Med Genet A, 2010, 152A(10):2437-2443.
|
| [2] |
Logeswaran T, Friedburg C, Hofmann K, et al. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome[J]. Am J Med Genet A, 2017, 173(9):2566.
|
| [3] |
Mc Glacken-Byrne AB, Prentice D, Roshandel D, et al. High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report[J]. BMC Ophthalmol, 2020, 20(1):68.
|
| [4] |
Moller HU, Fledelius HC, Milewicz DM, et al. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome[J]. Br J Ophthalmol, 2012, 96(9):1227-1231.
|
| [5] |
Amans MR, Stout C, Fox C, et al. Cerebral arteriopathy associated with Arg179His ACTA2 mutation[J]. J Neurointerv Surg, 2014, 6(9):e46.
|
| [6] |
Richer J, Milewicz DM, Gow R, et al. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations[J]. Am J Med Genet A, 2012, 158A(3):664-668.
|
| [7] |
Yang WX, Zhang HH, Hu JN, et al. ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature[J]. World J Clin Cases, 2021, 9(29):8789-8796.
|
| [8] |
Prabhu S, Fox S, Mattke A, et al. Extracorporeal life support in multisystem smooth muscle dysfunction syndrome[J]. World J Pediatr Congenit Heart Surg, 2017, 8(6):750-753.
|
| [9] |
Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines[J]. J Am Coll Cardiol, 2019, 73(12):e81-e192.
|