Opitz “C” trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q
Author:
Funder
OTKA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference13 articles.
1. Clinical and genetic aspects of trigonocephaly: A study of 25 cases;Azimi;Am J Med Genet,2003
2. Human SOX11, an upregulated gene during the neural differentiation, has a long 3′ untranslated region;Azuma;DNA Res,1999
3. Probably de novo 17q duplication (q11.2 → q21.1): A newly recognised chromosmal syndrome in a child with Klinefelter's syndrome;Butt;J Med Genet,1993
4. Duplication of distal 17q from a maternal translocation: An additional case with some unique features;Caine;J Med Genet,1989
5. Opitz C syndrome and pseudohypoaldosteronism;De Koster;Am J Med Genet,1990
Cited by 16 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. Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation;Molecular Syndromology;2024-05-30
2. Genetic analysis of de novo 17q terminal partial trisomy;2023-09-26
3. C syndrome - what do we know and what could the future hold?;Expert Opinion on Orphan Drugs;2019-03-04
4. Observation of Cleft Palate in an Individual with SOX11 Mutation;The Cleft Palate-Craniofacial Journal;2017-12-14
5. Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome;Journal of Medical Genetics;2015-11-05
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