A SOX3 duplication and lumbosacral spina bifida in three generations
Author:
Affiliation:
1. Greenwood Genetic Center Greenwood South Carolina USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62668
Reference18 articles.
1. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review
2. Neural tube defects as an X-linked condition
3. Evidence for increased SOX3 dosage as a risk factor for hypopituitarism and neural tube defects;Bauters M.;American Journal of Medical Genetics ‐ Part A,2014
4. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
5. Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification
Cited by 5 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. Role of Enzymes Capable of Transporting Phosphatidylserine in Brain Development and Brain Diseases;ACS Omega;2024-08-01
2. Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN;Prenatal Diagnosis;2024-06-19
3. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability;Clinical Genetics;2023-10-29
4. Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study;Genome Medicine;2023-05-23
5. X‐Linked intellectual disability update 2022;American Journal of Medical Genetics Part A;2022-10-27
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