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  • Molecular assay reagents intended to identify deletions or duplications of the fibroblast growth factor receptor 1 (FGFR1) gene, located at chromosome 8p11.23-p11.22, which encodes the protein fibroblast growth factor receptor 1. Genetic variants at this locus have been associated with Pfeiffer syndrome, Kallmann syndrome, Jackson-Weiss syndrome, encephalocraniocutaneous lipomatosis, trigonocephaly, and osteoglophonic dysplasia.
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