Fibroblast-growth-factor receptor mutations in human skeletal disorders - PubMed (original) (raw)

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Fibroblast-growth-factor receptor mutations in human skeletal disorders

M Muenke et al. Trends Genet. 1995 Aug.

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Abstract

Fibroblast-growth-factor receptors (FGFRs), members of the tyrosine-kinase receptor family, play a crucial role in signal transduction and development. Recently, unique mutations in three human FGFR-encoding genes (FGFR1-3) have been identified as the cause of a variety of skeletal disorders. Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these receptors in normal and abnormal bone development.

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