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Article

Phenotype profile of a genetic mouse model for Muenke syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Sept 2012

Nah Hyun-Duck, Koyama Eiki, Agochukwu Nneamaka B, Bartlett Scott P, Muenke Maximilian

Abstract excerpt

PURPOSE: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Imaging, Three-Dimensional

Share to Models, Biological

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Tomography, X-Ray Computed

Source

Open in PubMed Open full text

Identifiers

PMID: 22872265
DOI: 10.1007/s00381-012-1778-9
PMCID: PMC4131982

Genes

FGFR3

Variants

Provenance

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