Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome
Author:
Publisher
S. Karger AG
Subject
Dermatology
Reference22 articles.
1. A new form of hypertrichosis inherited as an X-linked dominant trait
2. An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
3. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
4. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)
5. Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome
Cited by 14 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. An Overview of the Deubiquitinase USP53: A Promising DiagnosticMarker and Therapeutic Target;Current Protein & Peptide Science;2024-11
2. The potential molecular mechanism underlying gypenoside amelioration of atherosclerosis in ApoE−/− mice: A multi-omics investigation;Heliyon;2024-04
3. Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1–3 and Granular Dentate with AMPA Synapse Interactions;Genes;2023-10-09
4. Expression and Role of Ubiquitin-Specific Peptidases in Osteoblasts;International Journal of Molecular Sciences;2021-07-20
5. Ubiquitin‐specific peptidase 53 inhibits the occurrence and development of clear cell renal cell carcinoma through NF‐κB pathway inactivation;Cancer Medicine;2021-05-11
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