A tale of two deletions: A report of two novel 20p13 → pter deletions
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference30 articles.
1. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases;Alagille;J Pediatr,1987
2. Alagille syndrome and deletion of 20p;Anad;J Med Genet,1990
3. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?;Bejjani;Am J Med Genet Part A,2005
4. Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia;Bergmann;Am J Hum Genet,2006
5. del(20p) with manifestations of arteriohepatic dysplasia;Byrne;Am J Med Genet,1986
Cited by 13 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. Subtelomeric microdeletion in chromosome 20p13 associated with short stature;Clinical Case Reports;2024-06
2. Prenatal diagnosis of 20p13 microdeletion syndrome;Taiwanese Journal of Obstetrics and Gynecology;2021-03
3. Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature;Molecular Genetics & Genomic Medicine;2019-05-13
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
5. Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations;Molecular Cytogenetics;2016-04-19
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