Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association

Published:2013-08 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bessenyei Beáta¹,Nagy Andrea²,Balogh Erzsébet¹,Novák László³,Bognár László³,Knegt Alida C.⁴,Oláh Éva¹

Affiliation:

1. Clinical Genetic Center; Department of Pediatrics; Medical and Health Science Center; University of Debrecen; Debrecen; Hungary

2. Department of Pediatrics; Medical and Health Science Center; University of Debrecen; Debrecen; Hungary

3. Department of Neurosurgery; Medical and Health Science Center; University of Debrecen; Debrecen; Hungary

4. Department of Clinical Genetics; Academic Medical Centrum; Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36130/fullpdf

Reference16 articles.

1. Molecularly proven hypochondroplasia with cloverleaf skull deformity: A novel association;Angle;Clin Genet,1998

2. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes;Bellus;Nat Genet,1996

3. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism;Bonaventure;Am J Med Genet,1996

4. Genetic analysis of non-syndromic craniosynostosis;Boyadjiev;Orthod Craniofac Res,2007

5. Mutations of the TWIST gene in the Saethre-Chotzen syndrome;El Ghouzzi;Nat Genet,1997

Cited by 18 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. Multiple Sutural Craniosynostosis;Smith's Recognizable Patterns of Human Deformation;2025

2. Review of published 467 achondroplasia patients: clinical and mutational spectrum;Orphanet Journal of Rare Diseases;2024-01-27

3. Surgical Management in Isolated Squamosal Craniosynostosis;Annals of Plastic Surgery;2023-08-12

4. Infigratinib, a selective FGFR1‐3 tyrosine kinase inhibitor, alters dentoalveolar development at high doses;Developmental Dynamics;2023-07-12

5. Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis;Journal of Craniofacial Surgery;2023-03-20

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