Novel GLI3 pathogenic variants in complex pre‐ and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel GLI3 pathogenic variants in complex pre‐ and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome

Published:2020-10-15 Issue:1 Volume:185 Page:97-104
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Patel Rashmi¹²,Singh Subodh Kumar³,Bhattacharya Visweswar⁴,Ali Akhtar¹^ORCID

Affiliation:

1. Centre for Genetic Disorders, Institute of Science Banaras Hindu University Varanasi Uttar Pradesh India

2. National Cancer Institute National Institute of Health Frederick MD USA

3. Department of Plastic Surgery G S Memorial Plastic Surgery Hospital & Trauma Center Varanasi India

4. Institute of Medical Sciences Banaras Hindu University Varanasi India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61919

Reference20 articles.

1. The Greig cephalopolysyndactyly syndrome

2. Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

3. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

4. Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization

5. rs929387 of GLI3 Is Involved in Tooth Agenesis in Chinese Han Population

Cited by 3 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. Polydactyly: Clinical and molecular manifestations;World Journal of Orthopedics;2023-01-18

2. Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO);Frontiers in Genetics;2022-06-22

3. A novel variant of GLI3 , p. Asp1514Thrfs *5, is identified in a Chinese family affected by polydactyly;Molecular Genetics & Genomic Medicine;2022-05-12

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