DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy
Author:
Affiliation:
1. Department of Pediatric Pulmonology; Hacettepe University School of Medicine; Ankara Turkey
2. Department of Pediatrics; University Hospital Muenster; Muenster Germany
Publisher
Wiley
Subject
Genetics(clinical),Pulmonary and Respiratory Medicine,Immunology and Allergy
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/crj.12620/fullpdf
Reference12 articles.
1. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol;Vries;Eur J Pediatr.,2010
2. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families;Baujat;J Med Genet.,2013
3. Ciliopathies: an expanding disease spectrum;Waters;Pediatr Nephrol.,2011
4. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nat Genet.,2007
5. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;Am J Hum Genet.,2009
Cited by 7 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. Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis;Microorganisms;2024-03-27
2. Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias;Genes;2022-07-27
3. A new technique for neonatal Jeune syndrome: External thoracic expansion;Turkish Journal of Thoracic and Cardiovascular Surgery;2021-04-26
4. Revisiting Skeletal Dysplasias in the Newborn;NeoReviews;2021-04-01
5. Motile ciliopathies;Nature Reviews Disease Primers;2020-09-17
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