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MedicineCardiologySurgeryHuman GeneticsAortic DiseaseAortic SurgeryCardiovascular DiseaseCongenital Heart DiseaseMendelian Cardiovascular DisordersValvular Heart DiseaseAortic Annulus DilationAortic Arch DiseaseAortic Root AnatomyAortic Root AssessmentAortic Root DilationAortic Root DiseaseMarfan Syndrome Aortopathy
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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations
Heritable Disorders of Connective Tissue
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