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  • Molecular assay reagents intended to identify deletions or duplications of the fibroblast growth factor receptor 3 (FGFR3) gene, located at chromosome 4p16.3, which encodes the protein fibroblast growth factor receptor 3. Genetic variants at this locus have been associated with isolated coronal synostosis; Crouzon syndrome with acanthosis nigricans; severe achondroplasia with developmental delay and acanthosis nigricans; thanatophoric dysplasia; camptodactyly, tall stature, and hearing loss syndrome; Muenke syndrome; colon cancer, hypochondroplasia; cervical cancer; epidermal nevus; Levy-Hollister syndrome; testicular cancer, urinary bladder cancer, and achondroplasia.
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