Distal arthrogryposis type IIB: Unreported ophthalmic findings
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference5 articles.
1. A revised and extended classification of the distal arthrogryposes
2. The distal arthrogryposes: Delineation of new entities - review and nosologic discussion
3. Ocular findings in distal arthrogryposis
4. Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly
5. Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
Cited by 18 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. <i>PIEZO2</i> gene and its role in the development of distal arthrogryposis: A literature review;Pediatric Traumatology, Orthopaedics and Reconstructive Surgery;2023-07-05
2. Association d’un kératocône et d’un syndrome de blépharophimosis avec un diabète génétique : à propos d’un cas;Journal Français d'Ophtalmologie;2022-04
3. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy;Human Genetics;2021-10-15
4. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family;American Journal of Medical Genetics Part A;2019-04
5. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing;Journal of Human Genetics;2018-09-04
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