Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2014264.pdf
Reference24 articles.
1. Faivre L, Dollfus H, Lyonnet S et al: Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A 2003; 123A: 204–207.
2. Sengle G, Tsutsui K, Keene DR et al: Microenvironmental regulation by fibrillin-1. PLoS Genet 2012; 8: e1002425.
3. Paton D, Murdoch JL : Weill-Marchesani syndrome. Birth Defects Original Article Series 1971; 7: 174–177.
4. Jensen AD, Cross HE, Paton D : Ocular complications in the Weill-Marchesani syndrome. Am J Ophthalmol 1974; 77: 261–269.
5. Wright KW, Chrousos GA : Weill-Marchesani syndrome with bilateral angle-closure glaucoma. J Pediatr Ophthalmol Strabismus 1985; 22: 129–132.
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. Lens;Ocular Pathology;2025
2. Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature;Journal of Medical Genetics;2023-09-21
3. TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature;Annual Review of Genomics and Human Genetics;2023-08-25
4. A Novel Mutation in the ADAMTS10 Associated with Weil–Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart;International Journal of Molecular Sciences;2023-05-16
5. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank;Nature Genetics;2022-02-17
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