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  • Molecular assay reagents intended to identify mutations in the fibroblast growth factor receptor 1 (FGFR1) gene, located at chromosome 8p11.2-p11.1, which encodes for a basic fibroblast growth factor receptor. Mutations at this locus have been identified in patients with hereditary defects in the normal ossification of fetal cranial cartilages (craniofacial dysostosis) and are associated with the three types of Pfeiffer\'s syndromes (i.e., variants 1, 2, and 3); they are also the cause of Kallmann\'s syndrome 2 (KAL2) and may be associated with Jackson-Weiss syndrome.
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