Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00476.x/fullpdf
Reference23 articles.
1. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1;Kass;Nat Genet,1994
2. Clinical characteristics of sudden death victims in heritable (chromosome 1p1-1q1) conduction and myocardial disease;Nelson;J Am Coll Cardiol,1998
3. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease;Fatkin;N Engl J Med,1999
4. Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field;Wilson;Am J Med Genet,1998
5. On brachydactyly and symphalangism: introduction and classification of cases;Bell;Treas Hum Inherit,1951
Cited by 14 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. Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome;Frontiers in Cardiovascular Medicine;2021-08-13
2. Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes;Physiological Genomics;2018-09-01
3. Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation;Frontiers in Genetics;2018-06-15
4. Diseases of the Nuclear Membrane;Cardioskeletal Myopathies in Children and Young Adults;2017
5. Heart‐hand syndrome IV : a second family with LMNA ‐related cardiomyopathy and brachydactyly;Clinical Genetics;2016-10-10
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