Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the <i>FBN1</i> Gene-Reference-Cited by-同舟云学术

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Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the <i>FBN1</i> Gene

Published:2022-07-30 Issue:4 Volume:63 Page:777-781
ISSN:1349-2365
Container-title:International Heart Journal
language:en
Short-container-title:Int. Heart J.

Author:

Motonaga Takahiro¹,Ohnishi Yuji¹,Okada Seigo¹,Suzuki Yasuo¹,Furuta Takashi¹,Kawamura Mai¹,Okayama Naoko²,Suehiro Yutaka³,Hasegawa Shunji¹

Affiliation:

1. Department of Pediatrics, Yamaguchi University Graduate School of Medicine

2. Division of Laboratory, Yamaguchi University Graduate School of Medicine

3. Department of Oncology and Laboratory Medicine, Yamaguchi University Graduate School of Medicine

Publisher

International Heart Journal (Japanese Heart Journal)

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

https://www.jstage.jst.go.jp/article/ihj/63/4/63_21-821/_pdf

Reference25 articles.

1. 1. Booms P, Cisler J, Mathews KR, et al. Novel exon skipping mutation in the brillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. Clin Genet 1999; 55: 110-7.

2. 2. Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366: 1965-76.

3. 3. Whitelaw CM, Anwar S, Adès LC, Gole GA, Elder JE, Savarirayan R. Primary trabeculodysgenesis in association with neonatal Marfan syndrome. Am J Med Genet A 2004; 128A: 418-21.

4. 4. 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.

5. 5. Peng Q, Deng Y, Yang Y, Liu H. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum. BMC Pediatr 2016; 16: 60.

Cited by 2 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. Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome;BMC Pediatrics;2023-10-28

2. Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma;Journal of Glaucoma;2023-03-20

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