Confirming the recessive inheritance of PERP ‐related erythrokeratoderma
Author:
Affiliation:
1. Department of GeneticsKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia
2. Dermatology DepartmentCollege of Medicine, King Saud University Riyadh Saudi Arabia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13699
Reference10 articles.
1. Master regulatory role of p63 in epidermal development and disease
2. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia
3. Mutations in PERP Cause Dominant and Recessive Keratoderma
4. Discovery of mutations for Mendelian disorders
5. The application of next-generation sequencing in the autozygosity mapping of human recessive diseases
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. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19
2. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma;Genes;2023-07-22
3. Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva;International Journal of Molecular Sciences;2022-01-01
4. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP;Journal of the European Academy of Dermatology and Venereology;2021-12-29
5. Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*;British Journal of Dermatology;2020-08-02
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