NovelSOX2mutations and genotypeâphenotype correlation in anophthalmia and microphthalmia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33098/fullpdf
Reference32 articles.
1. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions;Bakrania;Br J Ophthalmol,2007
2. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement;Chassaing;Am J Med Genet Part A,2007
3. Congenital eye malformations: A descriptive epidemiologic study in about one million newborns in Italy;Clementi;Birth Defects Orig Artic Ser,1996
4. Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression;Danno;Proc Natl Acad Sci,2008
5. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa;Dryja;Invest Ophthalmol Vis Sci,1997
Cited by 89 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. Magnetic Resonance Imaging Findings and Genetic Testing Results in Children With Congenital Corneal Opacities;American Journal of Ophthalmology;2024-03
2. Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia;Journal of Translational Medicine;2024-01-19
3. Transcription factors in microcephaly;Frontiers in Neuroscience;2023-11-29
4. Multi-omic spatial effects on high-resolution AI-derived retinal thickness;2023-08-02
5. Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study;Investigative Opthalmology & Visual Science;2023-06-02
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