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FGFR2 is a member of the FGFR family of receptor tyrosine kinases. This family is known to regulate a host of cellular functions including angiogenesis, mitogenesis, osteogenesis, myogenesis, carcinogenesis, cellular differentiation, and tissue repair after injury. The FGFR family has also been implicated in a number of diseases including cancer, rheumatoid arthritis, and diabetic retinopathy. FGFR family members differ from one another in their ligand affinities and tissue distribution. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
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