X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01037.x/fullpdf
Reference37 articles.
1. Ectodermal dysplasia: a clinical classification and a causal review;Pinheiro;Am J Med Genet,1994
2. Monogenic disorders;Carter;J Med Genet,1977
3. On the distributions of frequencies of mutation to genes determining harmful traits in man;Stevenson;Mutat Res,1967
4. Christ-Siemens-Touraine syndrome - a clinical and genetic analysis of large Brazilian kindred: III. Carrier detection;Pinheiro;Am J Med Genet,1979
Cited by 52 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. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia;Genes;2024-06-28
2. A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses;PLOS ONE;2024-01-22
3. Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families;Oral Diseases;2023-12-21
4. New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G;Molecular Genetics & Genomic Medicine;2023-09-04
5. Two cases of ectodermal dysplasia diagnosed based on congenital absence of multiple teeth;Pediatric Dental Journal;2023-08
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