Diagnosis and Treatment of Marfan Syndrome—A Summary (original) (raw)

Marfan syndrome. Part 1: pathophysiology and diagnosis

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Diagnosis and management of Marfan syndrome

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A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome

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The molecular genetics of Marfan syndrome and related disorders

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Marfan Syndrome: A Case Report

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Marfan's syndrome and the heart

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A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

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Marfan syndrome: A case report with review of literature

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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Marfan syndrome: current perspectives

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The Application of Clinical Genetics, 2016

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Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

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Proceedings of the National Academy of Sciences, 1992

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Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

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Expert Opinion on Orphan Drugs, 2014

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Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome

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American journal of human genetics, 1993

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Marfan's syndrome: a family affair

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Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome

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CASE REPORT ON MARFAN SYNDROME

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Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects

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Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome

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Journal of Medical Genetics, 1996

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Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition

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