A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease
Author:
Affiliation:
1. Section of Dermatology Division of Paediatric Medicine, The Hospital for Sick Children University of Toronto Toronto ON Canada
2. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto ON Canada
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14222
Reference14 articles.
1. Effects of Different Variants in theENPP1Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1
2. Mineralisation of collagen rich soft tissues and osteocyte lacunae in Enpp1 mice
3. Cole Disease Results from Mutations in ENPP1
4. Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy
5. Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations
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. A 3-month-old Infant with Mottled Hypo- and Hyper-pigmented Patches on the Extremities: A Quiz;Acta Dermato-Venereologica;2024-03-14
2. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma;Human Mutation;2022-05-18
3. Congenital hypopigmentation, hyperpigmentation, and punctate palmoplantar keratoderma;Pediatric Dermatology;2022-03-20
4. Cole disease due to a novel pathogenic variant in the ENPP1 gene;Journal of the European Academy of Dermatology and Venereology;2022-03-08
5. Hyperpigmentation in a Chinese family with autosomal dominant Cole disease;Experimental Dermatology;2021-07-29
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