Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
Author:
Affiliation:
1. College of Health Solutions Arizona State University Tempe Arizona USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62904
Reference46 articles.
1. Spatial and cell type transcriptional landscape of human cerebellar development
2. American Speech‐Language‐Hearing Association. (2007).Childhood apraxia of speech (position statement).www.asha.org/policy
3. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A
4. An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
5. Continuous speech processing
Cited by 4 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. Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences;International Journal of Developmental Neuroscience;2024-08-26
2. Role of the BCL11A/B Homologue Chronophage (Cph) in Locomotor Behaviour of Drosophila melanogaster;Neuroscience;2024-07
3. An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech;Journal of Speech, Language, and Hearing Research;2023-09-15
4. Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders;American Journal of Speech-Language Pathology;2023-07-10
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