Chromosome 6p25 Deletion Syndrome: Report of a case with optic disc coloboma and review of published ophthalmic findings
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2012.675396
Reference43 articles.
1. The 6p subtelomere deletion syndrome
2. Terminal deletion of 6p results in a recognizable phenotype
3. Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases
4. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
Cited by 14 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. In Vivo Assessment of Retinal Phenotypes in Axenfeld–Rieger Syndrome;Investigative Opthalmology & Visual Science;2024-04-08
2. Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening;Heliyon;2023-07
3. The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review;Orphanet Journal of Rare Diseases;2023-03-24
4. Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features;American Journal of Medical Genetics Part A;2023-03-20
5. Axenfeld–Rieger syndrome in the pediatric population: A review;Taiwan Journal of Ophthalmology;2023
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