The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense <scp> <i>HRAS</i> </scp> mosaicism-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense HRAS mosaicism

Published:2022-05-13 Issue:9 Volume:49 Page:921-924
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Huang Linting¹²³^ORCID,Zhang Jia¹²,Chen Fuying¹²,Zhang Xue¹²,Cao Yu¹²,Cheng Ruhong¹²^ORCID,Deng Dan¹²

Affiliation:

1. Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China

2. Institute of Dermatology Shanghai Jiao Tong University School of Medicine Shanghai China

3. Department of Laser and Aesthetic Medicine, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine Shanghai China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16434

Reference13 articles.

1. Epidermal nevus syndromes: New insights into whorls and swirls

2. The group of epidermal nevus syndromes

3. Phacomatosis pigmentokeratotica without extracutaneous abnormalities: 12-year follow-up

4. Phacomatosis Pigmentokeratotica Associated With Raynaud Phenomenon, Segmental Nevi, Hyperhidrosis, and Scoliosis

5. Phacomatosis pigmentokeratotica: A melanocytic-epidermal twin nevus syndrome

Cited by 4 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. Mosaic RASopathies concept: different skin lesions, same systemic manifestations?;Journal of Medical Genetics;2024-01-30

2. Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation;Frontiers in Genetics;2023-08-10

3. Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm;Clinical Genetics;2023-07-27

4. Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12

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