Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report
Abstract 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 luxat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-10-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12886-019-1217-8 |