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Human FGFR2 wild-type allele is located within 10q26 and is approximately 875 kb in length. This allele, which encodes fibroblast growth factor receptor 2 protein, plays a role in mitogenesis and differentiation by mediating the binding interactions of keratinocyte growth factor. Mutations in the 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.
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