Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33504/fullpdf
Reference9 articles.
1. Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes;Faiyaz-Ul-Haque;Clin Genet,2005
2. A recessive form of ectrodactyly, and its implications in genetic counseling;Freire-Maia;J Hered,1971
3. Evidence for autosomal recessive inheritance of split hand/split foot malformation: A report of nine cases;Gul;Clin Dysmorphol,2002
4. Hereditary ectrodactylism in siblings;Klein;Am J Dis Child,1932
Cited by 35 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. Early Prenatal Detection of Recessive Split-hand/Foot Malformation Caused by a Homozygous Variant of WNT10B;Journal of Medical Ultrasound;2024-07
2. Split-Hand/Foot Malformation (SHFM);Genetic Syndromes;2024
3. Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot Malformation;Molecular Syndromology;2023
4. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability;Human Genetics and Genomics Advances;2022-10
5. Wnt10a missense gene polymorphism association with obesity risk: List of literature and a case-control study with Roc analysis for serum β-catenin level in Egypt;Gene Reports;2022-06
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