Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30696/fullpdf
Reference49 articles.
1. Apparently new oculo-cerebro-acral syndrome;Atkin;Am J Med Genet,1984
2. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts;Barrow;J Med Genet,2002
3. Split hand foot malformation is associated with a reduced level of Dactylin gene expression;Basel;Clin Genet,2003
4. p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly;Berdon-Zapata;J Orthop Res,2004
5. p63 gene mutations and human developmental syndromes;Brunner;Am J Med Genet,2002a
Cited by 4 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. Prediction of Human Disease Genes by Human-Mouse Conserved Coexpression Analysis;PLoS Computational Biology;2008-03-28
2. Positive Regulation of Steroidogenic Acute Regulatory Protein Gene Expression through the Interaction between Dlx and GATA-4 for Testicular Steroidogenesis;Endocrinology;2008-02-14
3. Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4;European Journal of Human Genetics;2007-09-19
4. Congenital malformations co-occurring with hypospadias in California, 1983–1997;American Journal of Medical Genetics Part A;2007
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