Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

Published:2021-05 Issue:6 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Qian Wen¹^ORCID,Zhang Meijie²,Huang Hequn³,Chen Yihe¹,Park Gajin¹,Zeng Ni¹,Li Yueyue¹,Lu Qian¹,Luo Dan¹

Affiliation:

1. Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China

2. Department of Mycology Institute of Dermatology Chinese Academy of Medical Science and Peking Union Medical College Nanjing China

3. Department of Dermatology, No. 1 Hospital and Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1690

Reference25 articles.

1. Germline mutations in HRAS proto-oncogene cause Costello syndrome

2. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

3. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease

4. Linear nevus sebaceous with convulsions and mental retardation;Feuerstein R. C.;American Journal of Diseases of Children,1962

5. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

Cited by 5 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. Facial and anogenital papillomas in Costello syndrome – human papilloma virus or just hyperproliferation?;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-09-03

2. Somatische HRAS p.G12S‐Mutation verursacht Mosaik‐Costello‐Syndrom mit speziellen Hautmanifestationen;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-09

3. Somatic HRAS p.G12S mutation causes mosaic Costello syndrome with special cutaneous manifestations;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-08-20

4. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients;Journal of the European Academy of Dermatology and Venereology;2024-04-10

5. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06

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