Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference30 articles.
1. Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes;Arimura;Hum Mutat,2011
2. Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians;Chami;Can J Cardiol,2014
3. Chromosome 10q deletion del(10)(q26.1q26.3) is associated with cataract;Chang;Pediatr Neonatol,2013
4. 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies;Choucair;Am J Med Genet A,2015
5. A subterminal deletion of the long arm of chromosome 10: A clinical report and review;Courtens;Am J Med Genet A,2006
Cited by 8 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. Chromosome 10q26 Deletion Syndrome;Genetic Syndromes;2024
2. Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction;BMC Pregnancy and Childbirth;2022-01-19
3. Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion;Journal of American Association for Pediatric Ophthalmology and Strabismus;2021-10
4. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability;European Journal of Human Genetics;2021-08-20
5. Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review;Molecular Cytogenetics;2021-07-13
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