An Infant with Marfan Syndrome and Ventricular Septal Defect and Progressive Heart Failure
Author:
Affiliation:
1. Department of Pediatrics, Niigata University Medical and Dental Hospital
2. Department of Cardiovascular Surgery, Niigata University Medical and Dental Hospital
Publisher
The Japanese Society of Pediatric Cardiology and Cardiac Surgery
Subject
Polymers and Plastics,General Environmental Science
Link
https://www.jstage.jst.go.jp/article/jspccs/36/2/36_2019-0029/_pdf
Reference28 articles.
1. 1) Loeys BL, Dietz HC, Braverman AC, et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476–485
2. 2) Wang M, Clericuxio CL, Godfrey M: Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 1996; 59: 1027–1034
3. 3) Booms P, Cisler J, Mathews KR, et al: Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome. Clin Genet 1999; 55: 110–117
4. 4) Tiecke F, Katzke S, Booms P, et al: Classic, atypically severe and neonatal Marfan syndrome: Twelve mutations and genotype-phenotype correlations in FBN1 exons 24–40. Eur J Hum Genet 2001; 9: 13–21
5. 5) Gavilan C, Herraiz I, Granados MA, et al: Prenatal diagnosis of neonatal Marfan syndrome. Prenat Diagn 2011; 31: 610–613
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3