Neonatal Marfan Syndrome by Inherited Mutation-Reference-Cited by-同舟云学术

Neonatal Marfan Syndrome by Inherited Mutation

Published:2020-06-17 Issue:2 Volume:88 Page:176-177
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Mastromoro Gioia,Guida Valentina,Cellitti Raffaella,Cardilli Viviana,De Luca Alessandro,Pizzuti Antonio,Versacci Paolo^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s12098-020-03411-y.pdf

Reference5 articles.

1. Amado M, Calado MA, Ferreira R, Lourenço T. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep. 2014;2014:bcr2013202438.

2. Sutherell J, Zarate Y, Tinkle BT, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis. 2007;2:342–6.

3. Stevic I, Kozenko M, LoStracco R, Chan AKC, Chan HHW. Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg). Biochem Genet. 2014;52:225–32.

4. Savolainen A, Kupari M, Toivonen L, Kaitila I, Viitasalo M. Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome. J Intern Med. 1997;241:221–6.

5. Cook JR, Carta L, Bénard L, et al. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014;124:1329–39.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans;Molecular Genetics & Genomic Medicine;2021-07-29