Ocular manifestations of PACS1 mutation
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. DDD study: clinical delineation of the PACS1-related syndrome—report on 19 patients;Schuurs-Hoeijmakers;Am J Med Genet,2016
2. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;Am J Hum Genet,2012
3. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability;Gadzicki;Clin Genet,2015
4. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma;Reis;Birth Defects Res C Embryo Today,2015
5. Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus;Tsuchida;Biochem Biophys Res Commun,2008
Cited by 12 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. Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation;Molecular Biology Reports;2023-09-25
2. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder;Journal of Clinical Medicine;2023-06-14
3. First Report of Mexican Patients with <b><i>PACS1</i></b>-Related Neurodevelopmental Disorder and Review of the <b><i>PACS1</i></b>-, <b><i>PACS2</i></b>-, and <b><i>WDR37</i></b>-Related Ophthalmological Manifestations;Molecular Syndromology;2022-12-16
4. A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report;Cureus;2022-10-19
5. Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches;International Journal of Molecular Sciences;2022-08-25
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