Analysis of <scp>L1CAM</scp> gene mutation and imaging appearance in three Chinese families with <scp>L1</scp> syndrome: Three case reports-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports

Published:2022-07-05 Issue:9 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Gao Shanshan¹^ORCID,Zhao Xuechao¹,Zhao Ganye¹^ORCID,Dai Peng¹^ORCID,Kong Xiangdong¹^ORCID

Affiliation:

1. The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University Zhengzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2002

Reference15 articles.

1. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains

Cited by 4 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 female case of L1 syndrome that may have developed due to skewed X inactivation;Brain and Development;2024-06

2. Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities;Biomolecules;2024-04-11

3. A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature;Frontiers in Pediatrics;2023-08-01

4. X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease;Experimental Neurology;2023-08

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