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  • Molecular assay reagents intended to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, located at chromosome 10q26, which 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 several different but related diseases such as Apert\'s syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Pfeiffer\'s syndrome (variants 1, 2, and 3), and Jackson-Weiss syndrome.
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