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  • Molecular assay reagents intended to identify mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, located at chromosome 4p16.3, that encodes for acidic and basic fibroblast growth factor receptors. Mutations at this locus have been identified in patients with hereditary defects in the normal ossification of fetal cranial cartilages (craniofacial dysostosis), including patients with Crouzon syndrome with acanthosis nigrican and Muenke syndrome. Mutations in this gene may cause also disorders such as achondroplasia, hypochondroplasia, and neonatal thanatophoric dwarfism.
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