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Hearing loss in a mouse model of Muenke syndrome
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. Since FGF signalling plays dosage-sensitive roles in the different...
Autores principales: | Mansour, Suzanne L., Twigg, Stephen R.F., Freeland, Rowena M., Wall, Steven A., Li, Chaoying, Wilkie, Andrew O.M. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644644/ https://www.ncbi.nlm.nih.gov/pubmed/18818193 http://dx.doi.org/10.1093/hmg/ddn311 |
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