A distinct osteochondrodysplasia with hypertrichosis?Individualization of a probable autosomal recessive entity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00281261.pdf
Reference4 articles.
1. Beighton P (1970) Congenital hypertrichosis lanuginosa. Arch Dermatol 101:669?672
2. Danforth CH (1925) Studies on hair with special reference to hypertrichosis. Arch Dermatol Syphilol 12:380?401
3. Felgenhauer WR (1969) Hypertrichosis lanuginosa universalis. J Genet Hum 17:1?44
4. Freire-Maia N, Felizali J, de Figuereido AC, Opitz JM, Parreira M, Maia NA (1976) Hypertrichosis lanuginosa in a mother and son. Clin Genet 10:303?306
Cited by 95 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. Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care;Rare Disease and Orphan Drugs Journal;2023-09-28
2. Personalized Therapeutics for KATP-Dependent Pathologies;Annual Review of Pharmacology and Toxicology;2023-01-20
3. Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function;Function;2023
4. KATP channels in lymphatic function;American Journal of Physiology-Cell Physiology;2022-10-01
5. Kir6.1 and SUR2B in Cantú syndrome;American Journal of Physiology-Cell Physiology;2022-09-01
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