Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement
Author:
Affiliation:
1. Division of Medical Genetics, Department of Pediatrics; Saint Louis University School of Medicine; St. Louis, Missouri
2. Cardinal Glennon Children's Hospital Molecular Cytogenetics Laboratory; St. Louis, Missouri
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35918/fullpdf
Reference35 articles.
1. Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome;Alkalay;Am J Med Genet Part A,2011
2. 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome;Ben-Shachar;Am J Hum Genet,2008
3. Phenotypic variability of Cat-Eye syndrome;Berends;Genet Couns,2001
4. Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge Syndrome;Bergman;Eur J Hum Genet,2000
5. Concurrent microdeletion and duplication of 22q11.2;Blennow;Clin Genet,2008
Cited by 18 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. Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family;Molecular Cytogenetics;2023-10-25
2. Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome;The Cleft Palate Craniofacial Journal;2023-05-14
3. Exploration of Novel Genetic Evidence and Clinical Significance Into Hemifacial Microsomia Pathogenesis;Journal of Craniofacial Surgery;2023-02-06
4. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease;Journal of Medical Genetics;2022-02-02
5. A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings;European Journal of Medical Genetics;2021-11
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