Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation

Published:2023-09-25 Issue:11 Volume:50 Page:9121-9128
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Abbassi Meriame,Bourmtane Abdelhamid,Sayel Hanane,EL Mouhi Hinde,Jalte Meryem,Elasri Yasser Ali,Askander Omar,El Fahime Elmostafa,Bouguenouch Laila

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-023-08803-9.pdf

Reference19 articles.

1. Lucena PH, Nonaka C, Armani-Franceschi G, Carneiro P, Sales H, Lucena M et al A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report. Cureus. 2022 Oct 19 [cited 2023 Jul 16]; Available from: https://www.cureus.com/articles/94155-a-novel-pacs1-variant-associated-with-schuurs-hoeijmakers-syndrome-phenotype-in-an-indigenous-descendant-in-brazil-a-case-report

2. Schuurs-Hoeijmakers JHM, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S et al (2016) Clinical delineation of the PACS1 -related syndrome-report on 19 patients. Am J Med Genet A. 170(3):670–675

3. Liu Y, Ding H, Yan T, Liu L, Yu L, Huang Y et al (2021) A novel multi-exon deletion of PACS1 in a three-generation pedigree: supplements to PACS1 neurodevelopmental disorder spectrum. Front Genet. 12:690216

4. Schuurs-Hoeijmakers JHM, Oh EC, Vissers LELM, Swinkels MEM, Gilissen C, Willemsen MA et al (2012) Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 91(6):1122–1127

5. Arnedo M, Ascaso Á, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Ayerza-Casas A et al (2022) Molecular basis of the Schuurs–Hoeijmakers Syndrome: what we know about the gene and the PACS-1 protein and Novel Therapeutic Approaches. Int J Mol Sci. 23(17):9649

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

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