Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference23 articles.
1. American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders, 4th edition. Washington DC: American Psychiatric Association.
2. Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals
3. The expanding panorama of split hand foot malformation
4. Reproductive history of a healthy woman with mosaic duplication of chromosome 4p
5. A new member of the frizzled family from Drosophila functions as a Wingless receptor
Cited by 34 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. Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects;Birth Defects Research;2024-03
2. A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus;Frontiers in Molecular Biosciences;2023-10-17
3. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes;Genes;2023-07-26
4. SPLIT HAND/FOOT VARIANTS FAIL TO RESCUE PRDM1A MUTANT CRANIOFACIAL DEFECTS;2023-05-22
5. A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly;Molecular Genetics & Genomic Medicine;2023-04-18
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