X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene
Author:
Affiliation:
1. Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan
2. National Center for Child Health and Development, Tokyo, Japan
Publisher
Japanese Society for Pediatric Endocrinology
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://www.jstage.jst.go.jp/article/cpe/30/1/30_2020-0055/_pdf
Reference15 articles.
1. 1. Ogata, T. Genetics of human growth. Clin Pediatr Endocrinol 2006;15: 45–53.
2. 2. Vasques, GA, Andrade, NLM, Jorge, AAL. Genetic causes of isolated short stature. Arch Endocrinol Metab 2019;63: 70–8.
3. 3. Rao, E, Weiss, B, Fukami, M, Rump, A, Niesler, B, Mertz, A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16: 54–63.
4. 4. Raymond, FL. X linked mental retardation: a clinical guide. J Med Genet 2006;43: 193–200.
5. 5. Yamamoto, T, Imaizumi, T, Yamamoto-Shimojima, K, Lu, Y, Yanagishita, T, Shimada, S, et al. Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders. Brain Dev 2019;41: 776–82.
Cited by 7 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. X-Linked Intellectual Disability, A Novel KDM5C Variation: A Case Report;Iranian Journal of Pediatrics;2024-08-27
2. Histone demethylase JARID1C/KDM5C regulates Th17 cells by increasing IL-6 expression in diabetic plasmacytoid dendritic cells;JCI Insight;2024-06-24
3. Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants;Neurology Asia;2023-12
4. A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy;Annals of Child Neurology;2023-01-01
5. A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype;BMC Neurology;2022-12-19
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