Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report

BACKGROUND: Crouzon syndrome (CS), which results from fibroblast growth factor receptor 2 mutations, is associated with craniosynostosis, exophthalmos, and other symptoms. Herein, we report the genetic abnormalities detected in a Chinese family with autosomal dominant CS, combined with luxation of t...

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Detalles Bibliográficos
Autores principales: Yang, Ji, Tao, Tao, Liu, Hai, Hu, Zhu-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805391/
https://www.ncbi.nlm.nih.gov/pubmed/31640617
http://dx.doi.org/10.1186/s12886-019-1217-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805391/
https://www.ncbi.nlm.nih.gov/pubmed/31640617
http://dx.doi.org/10.1186/s12886-019-1217-8

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