Broad thumbs and halluces with deafness: A patient with Keipert syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference14 articles.
1. Keipert syndrome in two brothers from Turkey
2. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
3. 1995. Genetic hearing loss associated with musculoskeletal disorders. In: editors. Hereditary hearing loss and its syndromes. New York: Oxford University Press. p 141-233.
4. Connexin-26 mutations in sporadic and inherited sensorineural deafness
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. GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis;American Journal of Medical Genetics Part A;2024-06-23
2. Pathogenic Variants in GPC4 Cause Keipert Syndrome;The American Journal of Human Genetics;2019-05
3. Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification;American Journal of Medical Genetics Part A;2015-03-19
4. A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus;American Journal of Medical Genetics Part A;2011-05-12
5. The FG Syndromes (Online Mendelian Inheritance in Man 305450): Perspective in 2008;Advances in Pediatrics;2008-09
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