Rodriguez syndrome withSF3B4mutation: A severe form of Nager syndrome?
Author:
Affiliation:
1. Department of Medical Genetics Services; Marshfield Clinic; Marshfield Wisconsin
2. Biomedical Informatics; Marshfield Clinic Research Foundation; Marshfield Wisconsin
Funder
Marshfield Clinic Research Foundation
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36555/fullpdf
Reference12 articles.
1. Lethal acrofacial dysostosis, pre- and post-axail defects of the hands, and bilateral renal agenesis;Bates;Clin Dysmorphol,2002
2. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012
3. Acrofacial dysostosis type Rodriguez;Dimitrov;Am J Med Genet Part A,2005
4. New lethal acrofacial dysostosis syndrome;Fryns;Am J Med Genet,1991
5. Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son;Hall;Am J Med Genet,1989
Cited by 20 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. Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related Syndromes;2024-01-30
2. Children with Rare Nager Syndrome—Literature Review, Clinical and Physiotherapeutic Management;Genes;2023-12-24
3. The role of alternative pre-mRNA splicing in cancer progression;Cancer Cell International;2023-10-24
4. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias;Genetics in Medicine;2023-10
5. Sf3b4 regulates chromatin remodeler splicing and Hox expression;Differentiation;2023-05
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