A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1186/s12887-016-0598-6.pdf
Reference18 articles.
1. Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet. 1991;28:267–3.
2. Strigl S, Quagebeur JM, Gersony WM. Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol. 2007;28:403–5.
3. Stheneur C, Faivre L, Collod-Béroud G, Gautier E, Binquet C, Bonithon-Kopp C, et al. Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res. 2011;69:265–70.
4. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet. 1994;6:64–9.
5. Booms P, Cisler J, Mathews KR. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. Clin Genet. 1999;55:110–7.
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3. Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing;Functional & Integrative Genomics;2023-03-31
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5. 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
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