Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation

Published:2022-12-20 Issue: Volume: Page:1-4
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kenney Ryan¹,Borkhetaria Rucha¹,Soni Ajay²,Aliu Ermal³,Ely Amanda²^ORCID

Affiliation:

1. Penn State College of Medicine, 500 University Drive, Hershey, Pennsylvania, USA

2. Department of Ophthalmology, Pennsylvania State College of Medicine, 500 University Drive, Hershey, Pennsylvania, USA

3. Department of Pediatrics & Genetics, Pennsylvania State College of Medicine, 500 University Drive, Hershey, Pennsylvania, USA

Funder

no funding associated

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2155845

Reference8 articles.

1. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

2. Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

3. Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

4. Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

5. A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

同舟云学术

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