Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Author:
Affiliation:
1. Division of Medical Genetics; A. I. duPont Hospital for Children/Nemours; Wilmington Delaware
2. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany
Funder
Bundesministerium für Bildung und Forschung
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12980/fullpdf
Reference16 articles.
1. Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?;Gripp;Am J Med Genet,2008
2. Transmission of the rare HRAS mutation (c. 173C>T; p.T58I) further illustrates its attenuated phenotype;Gripp;Am J Med Genet,2012
3. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation with uncommon functional consequences;Gripp;Am J Med Genet,2015
4. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy;Hiippala;Am J Med Genet A,2016
Cited by 8 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. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing;Psychiatry Research Case Reports;2023-12
2. A very mild phenotype in six individuals of a three‐generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS‐related RASopathy distinct from Costello syndrome;American Journal of Medical Genetics Part A;2023-05-16
3. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome;European Journal of Human Genetics;2022-06-29
4. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06
5. Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients;Clinical Dysmorphology;2021-11-29
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