Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report
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DOI: 10.1186/s12886-019-1217-8
Abstract: BackgroundCrouzon 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,… read more here.
Keywords: case; luxation bulbus; bulbus oculi; luxation ... See more keywords