A rare ACAN non-canonical splicing-site intron variant results in familial short stature
Author:
Publisher
Elsevier BV
Reference20 articles.
1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion;Abou Tayoun;Hum. Mutat.,2018
2. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop;Cohen;J. Clin. Endocrinol. Metab.,2008
3. Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene;Eyre;J. Med. Genet.,2002
4. Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature;Hauer;Sci. Rep.,2017
5. A high proportion of novel ACAN mutations and their prevalence in a large cohort of Chinese short stature children;Lin;J. Clin. Endocrinol. Metab.,2021
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