Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities

Author:

Watanabe Yuko1,Shido Kosuke2,Niihori Tetsuya3,Niizuma Hidetaka1,Katata Yu1,Iizuka Chie1,Oba Daiju3,Moriya Kunihiko1,Saito-Nanjo Yuka1,Onuma Masaei1,Rikiishi Takeshi1,Sasahara Yoji1,Watanabe Mika4,Aiba Setsuya2,Saito Ryuta5,Sonoda Yukihiko5,Tominaga Teiji5,Aoki Yoko3,Kure Shigeo1

Affiliation:

1. Department of Pediatrics; Tohoku University School of Medicine; Sendai Miyagi Japan

2. Department of Dermatology; Tohoku University School of Medicine; Sendai Miyagi Japan

3. Department of Medical Genetics; Tohoku University School of Medicine; Sendai Miyagi Japan

4. Department of Pathology; Tohoku University School of Medicine; Sendai Miyagi Japan

5. Department of Neurosurgery; Tohoku University School of Medicine; Sendai Miyagi Japan

Funder

Japan Agency for Medical Research and Development (AMED)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Germline mutations in HRAS proto-oncogene cause costello syndrome;Aoki;Nat Genet,2005

2. Vemurafenib in pediatric patients with BRAFV600E mutated high-grade gliomas;Bautista;Pediatr Blood Cancer,2014

3. Review of neurological manifestations in 196 patients with sebaceous naevi;Davies;Australas J Dermatol,2002

4. Linear nevus sebaceus with convulsions and mental retardation;Feuerstein;Am J Dis Child,1962

5. Inhibition of mutated, activated BRAF in metastatic melanoma;Flaherty;N Engl J Med,2010

Cited by 21 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

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