Cargando…
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome
BACKGROUND: FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume of Crouzon syndrome and there was little dir...
Autores principales: | Fan, Jiayan, Li, Yinwei, Jia, Renbing, Fan, Xianqun |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975660/ https://www.ncbi.nlm.nih.gov/pubmed/29848297 http://dx.doi.org/10.1186/s12881-018-0607-8 |
Ejemplares similares
-
Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report
por: Yang, Ji, et al.
Publicado: (2019) -
FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome
por: Wang, Yidi, et al.
Publicado: (2022) -
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome
por: Lin, Ying, et al.
Publicado: (2017) -
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
por: Fenwick, Aimee L, et al.
Publicado: (2014) -
Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome
por: Luong, Anh Lan Thi, et al.
Publicado: (2019)