A patient with Phelan‐McDermid syndrome and dilation of the great vessels
Author:
Affiliation:
1. Florida State University College of Medicine Tallahassee Florida
2. Clinical Genetics Johns Hopkins All Children’s Hospital Saint Petersburg Florida
3. Pediatric Cardiology Johns Hopkins All Children’s Hospital Saint Petersburg Florida
Funder
Wellcome Trust
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2003
Reference24 articles.
1. 22q13 deletion syndrome
2. 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
3. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
4. Clinical utility gene card for: Deletion 22q13 syndrome
5. SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Cited by 6 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. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy;European Journal of Medical Genetics;2024-10
2. Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome;American Journal of Medical Genetics Part A;2024-09-11
3. Updated consensus guidelines on the management of Phelan–McDermid syndrome;American Journal of Medical Genetics Part A;2023-07
4. Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13;Genes;2023-02-21
5. State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes;Genes;2022-06-10
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