Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
Author:
Publisher
MDPI AG
Subject
Genetics (clinical),Genetics
Link
http://www.mdpi.com/2073-4425/7/11/96/pdf
Reference80 articles.
1. Mutation analysis of theNSD1 gene in a group of 59 patients with congenital overgrowth
2. Sotos syndrome: a study of the diagnostic criteria and natural history.
3. Cerebral Gigantism in Childhood
4. Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
5. Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome
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. A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review;Brain and Behavior;2023-10-31
2. Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study;Frontiers in Pediatrics;2023-06-13
3. NSD1 Mutations and Pediatric High-Grade Gliomas: A Comparative Genomic Study in Primary and Recurrent Tumors;Diagnostics;2022-12-27
4. Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population;Medicina;2022-07-21
5. Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome;American Journal of Medical Genetics Part A;2021-08-18
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