Kabuki syndrome: a review
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2004.00348.x/fullpdf
Reference73 articles.
1. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981
2. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation;Kuroki;J Pediatr,1981
3. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients;Niikawa;Am J Med Genet,1988
4. Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in Europe;Braun;J Pediatr,1984
5. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations;Ilyina;Am J Med Genet,1995
Cited by 157 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. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome;Scientific Reports;2024-01-28
2. Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology;Graefe's Archive for Clinical and Experimental Ophthalmology;2024-01-11
3. Developmental Anomalies of the Globe and Ocular Adnexa in Neonates;Principles of Neonatology;2024
4. Systemic and oral abnormalities in Kabuki syndrome – case series;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2023-12
5. SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder;Birth Defects Research;2023-10-06
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