A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00033.x/fullpdf
Reference17 articles.
1. Schimke immuno-osseous dysplasia: case report and review;Ludman;Am J Med Genet,1993
2. Signal transduction, lessons learned from rare pediatric immunodeficiencies;Cohen;Immunol Allergy Clin North Am,1999
3. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome;Roifman;Clin Genet,1999
4. Humoral immunodeficiencies associated with bone dysplasias;Atkinson;Immunol Allergy Clin North Am,2001
5. Noncompaction of the myocardium associated with Roifman syndrome;Mandel;Cardiol Young,2001
Cited by 28 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: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition;Frontiers in Immunology;2024-01-29
2. Minor intron splicing is critical for survival of lethal prostate cancer;Molecular Cell;2023-06
3. Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations;Molecular Genetics and Genomics;2023-04-03
4. Spondyloenchondrodysplasia Due to Mutation in ACP5 Gene Presenting with Nephrotic Syndrome: A Case Report;Aktuelle Rheumatologie;2022-09-07
5. Systemic Autoinflammatory Diseases;Rheumatic Disease Clinics of North America;2022-02
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