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- Title
Phenotype profile of a genetic mouse model for Muenke syndrome.
- Authors
Nah, Hyun-Duck; Koyama, Eiki; Agochukwu, Nneamaka B; Bartlett, Scott P; Muenke, Maximilian
- Abstract
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. Muenke syndrome is characterized by coronal suture synostosis, midface hypoplasia, subtle limb anomalies, and hearing loss. However, the spectrum of clinical presentation continues to expand. To better understand the pathophysiology of the Muenke syndrome, we present collective findings from several recent studies that have characterized a genetically equivalent mouse model for Muenke syndrome (FgfR3 (P244R)) and compare them with human phenotypes.
- Publication
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2012, Vol 28, Issue 9, p1483
- ISSN
1433-0350
- Publication type
Journal Article
- DOI
10.1007/s00381-012-1778-9