DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome
Author:
Funder
Canadian Institutes of Health Research
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss;Azaiez;Hum Mutat,2014
2. The genetic basis of DOORS syndrome: An exome-sequencing study;Campeau;Lancet Neurol,2014
3. Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome);Cantwell;Humangenetik,1975
4. Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review;Castori;Eur J Med Genet,2013
5. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24;Corbett;Am J Hum Genet,2010
Cited by 44 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. Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants;Journal of Biological Chemistry;2024-08
2. SWI/SNF Complex Connects Signaling and Epigenetic State in Cells of Nervous System;Molecular Neurobiology;2024-07-13
3. Ursids evolved dietary diversity without major alterations in metabolic rates;Scientific Reports;2024-02-27
4. Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss;Scientific Reports;2024-02-27
5. Dysmorphic Syndromes with Prevalent Involvement of Long Bones;Prenatal Diagnosis of Fetal Osteopathologies;2024
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