Suppr超能文献

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.

作者信息

Schindler S, Friedrich M, Wagener H, Lorenz B, Preising M N

出版信息

J Med Genet. 2002 Oct;39(10):764-6. doi: 10.1136/jmg.39.10.764.

Abstract
摘要

相似文献

4
Fibroblast growth factor receptor-2 mutations in craniosynostosis.
Ann N Y Acad Sci. 1996 Jun 8;785:164-70. doi: 10.1111/j.1749-6632.1996.tb56255.x.
6
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
J Craniofac Surg. 2005 May;16(3):347-52; discussion 353-4. doi: 10.1097/01.scs.0000157024.56055.f2.
7
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
Mol Genet Metab. 1998 May;64(1):76-9. doi: 10.1006/mgme.1998.2694.
8
FGFR mutations and plagiocephaly.
J Craniofac Surg. 2008 Jan;19(1):290-1. doi: 10.1097/SCS.0b013e31815ca1e6.
9
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
Mund Kiefer Gesichtschir. 2003 May;7(3):132-7. doi: 10.1007/s10006-002-0447-7. Epub 2003 Apr 30.
10
Genetic and environmental risk factors for sagittal craniosynostosis.
J Craniofac Surg. 2002 Sep;13(5):602-6. doi: 10.1097/00001665-200209000-00002.

引用本文的文献

1
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.
Plast Reconstr Surg. 2016 Mar;137(3):952-961. doi: 10.1097/01.prs.0000479978.75545.ee.
2
The Fibroblast Growth Factor signaling pathway.
Wiley Interdiscip Rev Dev Biol. 2015 May-Jun;4(3):215-66. doi: 10.1002/wdev.176. Epub 2015 Mar 13.
4
A Korean family with the Muenke syndrome.
J Korean Med Sci. 2010 Jul;25(7):1086-9. doi: 10.3346/jkms.2010.25.7.1086. Epub 2010 Jun 17.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验