Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene
Author:
Funder
Russian Ministry of Health
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00198-020-05758-6.pdf
Reference17 articles.
1. Lessel D, Kubisch C (2019) Hereditary syndromes with signs of premature aging. Dtsch Arztebl Int 116(29–30):489–496. https://doi.org/10.3238/arztebl.2019.0489.
2. AlSabbagh MM (2020) Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges 18(9):943–967. https://doi.org/10.1111/ddg.14268
3. Alter BP, Giri N, Savage SA et al (2009) Cancer in dyskeratosis congenita. Blood 113(26):6549–6557. https://doi.org/10.1182/blood-2008-12-192880
4. Pignolo RJ, Suda RK, McMillan EA et al (2008) Defects in telomere maintenance molecules impair osteoblast differentiation and promote osteoporosis. Aging Cell 7(1):23–31. https://doi.org/10.1111/j.1474-9726.2007.00350.x
5. Niewisch MR, Savage SA (2019) An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 12(12):1037–1052. https://doi.org/10.1080/17474086.2019.1662720
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. Poly (A)-specific ribonuclease deficiency impacts oogenesis in zebrafish;Scientific Reports;2023-06-20
2. RNA deadenylation complexes in development and diseases;Biochemistry and Cell Biology;2023-04-01
3. Efficacy of combined immunosuppression with or without eltrombopag in children with newly diagnosed aplastic anemia;Blood Advances;2023-03-16
4. Telomeres: Dysfunction, Maintenance, Aging and Cancer;aging and disease;2023
5. Inherited bone marrow failure syndromes: a review of current practices and potential future research directions;Current Opinion in Pediatrics;2022-11-10
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