Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
Author:
Funder
Inha University
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference23 articles.
1. Obsessive compulsive symptoms and psychopathological profile in children and adolescents with KBG syndrome.;Alfieri;Brain Sci.,2019
2. KBG syndrome.;Brancati;Orphanet J. Rare Dis.,2006
3. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.;Gallagher;Dev. Cell,2015
4. Growth hormone therapy for children with KBG syndrome: a case report and review of literature.;Ge;World J. Clin. Cases,2020
5. KBG syndrome: common and uncommon clinical features based on 31 new patients.;Gnazzo;Am. J. Med. Genet. A,2020
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. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search;Orphanet Journal of Rare Diseases;2024-08-12
2. Epilepsy in KBG Syndrome: Report of Additional Cases;Pediatric Neurology;2024-02
3. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome;Epilepsia Open;2023-08-18
4. Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly;Frontiers in Genetics;2022-03-10
5. Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature;Journal of Personalized Medicine;2022-03-05
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