The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33975/fullpdf
Reference10 articles.
1. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome;Ferreira de Lima;Am J Med Genet Part A,2003
2. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis;Golbert;Clin Dysmorphol,2007
3. Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs;Graziadio;Am J Med Genet Part A,2009
4. Acrofacial dysostoses: Review and report of a previously dominant catania form of acrofacial dysostosis;Opitz;Am J Med Genet,1993
5. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: Another affected Brazilian patient born to consanguineous parents;Richieri-Costa;Am J Med Genet,1997
Cited by 10 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. Treatment of the median mandibular cleft in Richieri-Costa-Pereira syndrome with a customized total mandibular prosthesis: A case report;Oral and Maxillofacial Surgery Cases;2024-03
2. Craniofacial Features in Richieri-Costa-Pereira Syndrome;The Cleft Palate-Craniofacial Journal;2021-01-28
3. Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome;Journal of Craniofacial Surgery;2018-09
4. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum;Clinical Genetics;2018-02-20
5. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome;Human Molecular Genetics;2017-03-02
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