Associated Papers
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant.
Zhang LJ et al.
Ophthalmic Genetics, 2025
Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Li Q et al.
Frontiers in Pharmacology, 2024
A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection.
Focke JK et al.
Neurological Research and Practice, 2023
Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.
Lupo V et al.
American Journal of Medical Genetics. Part A, 2023
Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.
Prentice DA et al.
Neuroradiology, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 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
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
Mc Glacken-Byrne AB et al.
Bmc Ophthalmology, 2020
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