Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32830/fullpdf
Reference38 articles.
1. The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6;Akiyama;Genes Dev,2002
2. Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern;Bagheri-Fam;Dev Biol,2006
3. Sox9 is required for cartilage formation;Bi;Nat Genet,1999
4. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway;Bien-Willner;Hum Mol Genet,2007
5. A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal;Cameron;Hum Mol Genet,1996
Cited by 65 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. Functional categorization of gene regulatory variants that cause Mendelian conditions;Human Genetics;2024-03-04
2. Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion;Frontiers in Genetics;2022-08-29
3. SOX Genes and Their Role in Disorders of Sex Development;Sexual Development;2022
4. Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene;European Journal of Medical Genetics;2021-11
5. A pioneering approach for non-invasive sex identification of Chinese sturgeon at early stage;Aquaculture;2021-05
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