Phenotypic and genotypic features of POC1B -associated cone dystrophy
Author:
Affiliation:
1. Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2. Ophthalmology Department, King Saud University Medical City, Riyadh, Saudi Arabia
Funder
no funding
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2204361
Reference34 articles.
1. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations;Manes G;Mol Vis,2017
2. Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1
3. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation
4. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1
5. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants;Fujinami K;Mol Vis,2013
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