Clinical and Molecular Characterization of a Patient With an Interstitial Deletion of Chromosome 12q15-q23 and Peripheral Corneal Abnormalities
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference7 articles.
1. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis;Tahvanainen;Genomics,1995
2. Linkage disequilibrium mapping of the cornea plana congenital gene CNA2;Tahvanainen;Genomics,1995
3. Dominantly and recessively inherited cornea plana congenital map to the same small region of chromosome 12;Tahvanainen;Genome Res,1996
4. A second locus for familial high myopia maps to chromosome 12q;Young;Am J Hum Genet,1998
5. Mutations in KERA, encoding keratocan, cause cornea plana;Pellegata;Nat Genet,2000
Cited by 6 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. Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms;Progress in Retinal and Eye Research;2024-09
2. Signatures of natural and unnatural selection: evidence from an immune system gene in African buffalo;Conservation Genetics;2014-10-16
3. Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12;PLoS ONE;2014-04-23
4. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions;European Journal of Human Genetics;2011-04-20
5. Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations inDCN, DSPG3, FOXC1, KERA, LUM,orPITX2;Ophthalmic Genetics;2007-01
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