Variabilidad fenotípica del síndrome de Marfan en una familia con una nueva mutación en el gen FBN1
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference5 articles.
1. Marfan syndrome: clinical diagnosis and management;Dean;Eur J Hum Genet,2007
2. The revised Ghent nosology for the Marfan syndrome;Loeys;J Med Genet,2010
3. Utilidad del diagnóstico molecular en una familia con síndrome de Marfan y fenotipo vascular atípico;Lebrero;Rev Esp Cardiol,2011
4. Compound heterocygous Marfan syndrome;Van Dijk;Eur J Med Genet,2009
5. The importance of mutation detection in Marfan-related disorders: Report of 193 FBN1 mutations;Comeglio;Hum Mutat,2007
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1. The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency;Frontiers in Cardiovascular Medicine;2024-03-13
2. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts;Frontiers in Genetics;2022-07-25
3. Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome;Genes;2022-06-08
4. Is HSPG2 a modifier gene for Marfan syndrome?;European Journal of Human Genetics;2020-06-08
5. Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability;Genes;2020-05-20
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