Two novel mutations in <scp>LSS</scp> gene associated with hypotrichosis simplex in a Chinese family-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family

Published:2024-08-16 Issue: Volume: Page:
ISSN:1473-2130
Container-title:Journal of Cosmetic Dermatology
language:en
Short-container-title:J of Cosmetic Dermatology

Author:

Yang Linfang¹,Li Shengjie²,Yao Mengmeng¹,Jiang Shibin¹,Cheng Fang¹,Jia Xinmiao³^ORCID

Affiliation:

1. Departments of Dermatology Xingtai People's Hospital Xingtai Hebei China

2. Biomedical Engineering Facility of National Infrastructures for Translational Medicine, Peking Union Medical College Hospital Beijing China

3. Center for bioinformatics, National Infrastructures for Translational Medicine, Peking Union Medical College Hospital Beijing China

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jocd.16530

Reference4 articles.

1. A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family

2. Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

3. Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene

4. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

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