Associated Papers
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Wei X et al.
Bmc Medical Genomics, 2024
38773466 (PubMed )
Supplement: 12920_2024_1908_MOESM2_ESM.xlsx › summary
Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report.
Finsterer J et al.
Cureus, 2023
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Chesneau B et al.
Molecular Genetics & Genomic Medicine, 2021
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