A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0625-6.pdf
Reference22 articles.
1. Kloepfer HW, Platou RV, Hansche WJ. Manifestations of a recessive gene for microcephaly in a population isolate. J Genet Hum. 1964;13:52–9.
2. Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A. Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders. J Biosoc Sci. 2009;41(5):575–81.
3. Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet. 2009;25(11):501–10.
4. Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, et al. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010;47(12):823–8.
5. Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. J Hum Genet. 2006;51(9):760–4.
Cited by 7 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. Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly;Cells;2023-02-16
2. Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene;Genes;2021-04-19
3. Association of Infantile Spasms and Hypsarrhythmia with Primary Microcephaly- Three Case Reports;Annals of Indian Academy of Neurology;2021
4. Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317);Neuromuscular Diseases;2020-12-06
5. The Spindle-Associated Microcephaly Protein, WDR62, Is Required for Neurogenesis and Development of the Hippocampus;Frontiers in Cell and Developmental Biology;2020-09-11
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