Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference18 articles.
1. The clinical and genetic spectrum of the Holt-Oram syndrome;Basson;New Engl J M,1994
2. Genetic heterogeneity of heart-hand syndromes;Basson;Circulation,1995
3. Mutations in humans cause limb and cardiac malformation in Holt-Oram syndrome;Basson;Nat Genet,1997
4. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations;Basson;Proc Natl Acad Sci USA,1999
5. The mutation spectrum in Holt-Oram syndrome;Cross;J Med Genet,2000
Cited by 24 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. Lateral thinking in syndromic congenital cardiovascular disease;Disease Models & Mechanisms;2023-05-01
2. TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects;Molecular Medicine Reports;2022-05-04
3. Gestational Leucylation Suppresses Embryonic T‐Box Transcription Factor 5 Signal and Causes Congenital Heart Disease;Advanced Science;2022-03-23
4. Electrical disorders in atrial septal defect: genetics and heritability;Journal of Thoracic Disease;2018-09
5. Holt-Oram Syndrome;Obstetric Imaging: Fetal Diagnosis and Care;2018
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