1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM: Pelger-Huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A 161A:2066-2073 (2013).
2. Clayton PT, Eckhardt S, Wilson J, Hall CM, Yousuf Y, et al: Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. J Inherit Metab Dis 17:533-540 (1994).
3. Di Benedetto R, Denti MA, Salvati S, Sanchez M, Attorri L, et al: RNAi-mediated silencing of ABCD3 gene expression in rat C6 glial cells: a model system to study PMP70 function. Neurochem Int 52:1106-1113 (2008).
4. Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, et al: Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. Am J Med Genet A 152A:987-993 (2010).
5. Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE: Response to: Toriello et al., “Update on the Toriello-Carey Syndrome.” Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A, E-pub ahead of print (2017).
Cited by 1 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. Multi-tissue transcriptome-wide association study identifies novel candidate susceptibility genes for cataract;Frontiers in Ophthalmology;2024-04-16
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