Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2
Author:
Affiliation:
1. Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang China
Funder
Doctoral Start-up Foundation of Liaoning Province
China Medical University
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.843
Reference15 articles.
1. Hand anomalies in Crouzon syndrome
2. Lymphatic system anomalies in Crouzon syndrome
3. Radiographic hand abnormalities in fifteen cases of Crouzon syndrome;Kaler S. G.;Journal of Craniofacial Genetics and Developmental Biology,1982
4. S267P Mutation in FGFR2
5. The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity
Cited by 8 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. Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing;Orphanet Journal of Rare Diseases;2024-04-01
2. Genetic Insights into the 'Sandwich Fusion' Subtype of Klippel-Feil Syndrome: Novel FGFR2 Mutations Identified by 21 cases of Whole-Exome Sequencing;2023-11-23
3. Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report;Journal of Medical Case Reports;2023-02-09
4. Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort;Scientific Reports;2023-01-18
5. Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux;DNA and Cell Biology;2022-11-01
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