WITHDRAWN: Schuurs‐Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

WITHDRAWN: Schuurs‐Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation

Published:2021-05 Issue: Volume: Page:
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Gana Simone,Morelli Federica,Plumari Massimo,Pichiecchio Anna,Signorini Sabrina,Maria Valente Enza

Funder

Ministero della Salute

Fondazione Pierfranco e Luisa Mariani

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet 2012; 91:1122–7.

2. Clinical delineation of the PACS1-related syndrome — Report on 19 patients;Schuurs-Hoeijmakers;Am J Med Genet A,2016

3. Schuurs-Hoeijmakers syndrome in a patient from India;Dutta;Am J Med Genet A,2019

4. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability: Letter to the editor;Gadzicki;Clin Genet,2015

5. Fetal phenotypes emerge as genetic technologies become robust;Gray;Prenat Diagn,2019

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. A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum;Frontiers in Genetics;2021-07-23

同舟云学术

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