Found: 4
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Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 574, doi. 10.3390/genes11050574
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- Publication type:
- Article
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03191-0
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- Publication type:
- Article
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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1814
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- Publication type:
- Article
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1132
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- Article