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  • Molecular assay reagents intended to identify deletions or duplications of the fibroblast growth factor receptor 2 (FGFR2) gene, located at chromosome 10q26, which encodes the protein fibroblast growth factor receptor 2. Genetic variants at this locus have been associated with bent bone dysplasia syndrome; isolated coronal synostosis; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Beare-Stevenson cutis gyrata syndrome; scaphocephaly, maxillary retrusion, and mental retardation; Pfeiffer syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Saethre-Chotzen syndrome; gastric cancer; acrocephalosyndactyly; and crouzon syndrome.
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