Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. The genetics of low-density lipoprotein receptor-related protein 5 in bone: A story of extremes;Balemans;Endocrinology,2007
2. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC);Briggs;Am J Med Genet Part A,2008
3. The pathophysiological role of PEDF in bone diseases;Broadhead;Curr Mol Med,2010
4. A mutation in the norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy;Chen;Nat Genet,1993
5. Coats' plus: A progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument;Crow;Neuropediatrics,2004
Cited by 9 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. Revesz syndrome revisited;Orphanet Journal of Rare Diseases;2020-10-23
2. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures;Molecular Genetics & Genomic Medicine;2018-11
3. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or “Coats Plus”: when peripheral retinal vasculature signals neurologic disease;Journal of American Association for Pediatric Ophthalmology and Strabismus;2017-10
4. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts;Clinical Genetics;2017-03-30
5. Cerebroretinal microangiopathy with calcifications and cysts;Medicine;2017-01
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