Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201865.pdf
Reference21 articles.
1. Judge DP, Dietz HC : Marfan's syndrome. Lancet 2005; 366: 1965–1976.
2. Dietz HC, Cutting GR, Pyeritz RE et al: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337–339.
3. De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE : Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417–426.
4. Robinson PN, Godfrey M : The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37: 9–25.
5. Robinson PN, Booms P, Katzke S et al: Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002; 20: 153–161.
Cited by 30 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. Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease;Genes;2023-10-24
2. A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome;CSH MOL CASE STUD;2022
3. Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52;International Journal of Molecular Sciences;2021-03-27
4. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing;Scientific Reports;2021-01-12
5. The Molecular Genetics of Marfan Syndrome;International Journal of Medical Sciences;2021
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