Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1

Author:

Jewell Rosalyn,Sarkar Ajoy,Jones Rebecca,Wilkinson Ashley,Martin Kate,Arundel Paul,Balasubramanian Meena

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. Osteogenesis imperfecta type I caused by COL1A1 deletions;Bardai;Calcif Tissue Int,2016

2. Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1;Ben Amor;J Bone Miner Res,2013

3. Osteogenesis imperfecta;Forlino;Lancet,2016

4. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33–q22 (COL1A1 and DLX3) deletion and 7q32.3–q33 duplication resulting from a reciprocal interchromosomal insertion;Harbuz;Am J Med Genet A,2013

5. Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta;Kim;Oral Dis,2016

同舟云学术

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