A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A
Author:
Affiliation:
1. Center for Human Genetics; IPG; Charleroi (Gosselies) Belgium
2. Department of Clinical Genetics; Churchill Hospital; Oxford UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36442/fullpdf
Reference17 articles.
1. Further delineation of Kabuki syndrome in 48 well-defined new individuals;Armstrong;Am J Med Genet A,2005
2. Regulating a master regulator: Establishing tissue-specific gene expression in skeletal muscle;Aziz;Epigenetics,2010
3. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012
4. Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome;Bhat;Echocardiography,2012
5. Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: Valve-sparing aortic root replacement;Dyamenahalli;Congenit Heart Dis,2007
Cited by 36 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. Epigenetic modifier Kdm6a/Utx controls the specification of hypothalamic neuronal subtypes in a sex-dependent manner;Frontiers in Cell and Developmental Biology;2022-10-04
2. From Genotype to Phenotype—A Review of Kabuki Syndrome;Genes;2022-09-29
3. Epigenetic Modifier Kdm6a/Utx Controls the Specification of Hypothalamic Neuronal Subtypes in a Sex-Dependent Manner;2022-07-27
4. Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene;Frontiers in Genetics;2022-05-31
5. The KDM6B mutation: Phenotype and clinical characteristics—Report of a case;Revista de Psiquiatría y Salud Mental (English Edition);2022-04
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