Neonatal Marfan syndrome: a successful early multidisciplinary approach
Author:
Publisher
BMJ
Subject
General Medicine
Reference8 articles.
1. Recent progress in Marfan syndrome;Stheneur;Arch Pediatr,2012
2. International nosology of heritable disorders of connective tissue;Beighton;Am J Med Genet,1988
3. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am J Med Genet,1996
4. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study;Faivre;Am J Hum Genet,2007
5. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation;Faivre;Eur J Hum Genet,2009
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1. A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome;CSH MOL CASE STUD;2022
2. Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the <i>FBN1</i> Gene;International Heart Journal;2022-07-30
3. A clinical scoring system for early onset (neonatal) Marfan syndrome;Genetics in Medicine;2022-07
4. Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement;Cardiology in the Young;2021-09-16
5. Neonatal Marfan Syndrome by Inherited Mutation;The Indian Journal of Pediatrics;2020-06-17
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