Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. Crystal structure of wild-type chaperonin GroEL;Bartolucci;J. Mol. Biol.,2005
2. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation;Basel-Vanagaite;J. Med. Genet.,2006
3. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability;Bernkopf;Hum. Mol. Genet.,2014
4. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation;Brunetti-Pierri;Am. J. Med. Genet.,2008
5. Etiological findings and associated factors in children with severe mental retardation;Cans;Dev. Med. Child Neurol.,1999
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. Association Analysis of METTL23 Gene Polymorphisms with Reproductive Traits in Kele Pigs;Genes;2024-08-12
2. Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report;Frontiers in Pediatrics;2024-07-04
3. Exploring Epigenetic Modifications as Potential Biomarkers and Therapeutic Targets in Glaucoma;International Journal of Molecular Sciences;2024-02-29
4. Molecular genetics of inherited normal tension glaucoma;Indian Journal of Ophthalmology;2024-02-23
5. METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma;Journal of Clinical Investigation;2022-11-01
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