Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33146/fullpdf
Reference27 articles.
1. Smad function and intranuclear targeting share a RUNX2 motif required for osteogenic lineage induction and BMP2 responsive transcription;Afzal;J Cell Physiol,2005
2. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals;Brueton;Am J Med Genet,1992
3. Intrafamilial variability in cleidocranial dysplasia: A three generation family;Chitayat;Am J Med Genet,1992
4. Sub nuclear targeting of RUNX2/Cbfa/AML factors is essential for tissue-specific differentiation during embryonic development;Choi;Proc Natl Acad Sci USA,2001
5. A natural history of Cleidocranial dysplasia;Cooper;Am J Med Genet,2001
Cited by 31 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. Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults;Bone;2022-10
2. Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass;JBMR Plus;2022-07-05
3. A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia;Genes;2022-06-23
4. Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report;Medicina;2021-12-10
5. Hypophosphatasia and cleidocranial dysplasia—a case report and review of the literature: the role of the neurosurgeon;Child's Nervous System;2021-06-15
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