FGFR2 is a member of the fibroblast growth factor receptor family which play a role in mitogenesis and differentiation. FGFR2 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, and mutations in FGFR2 are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. FGFR2 is required for early postimplantation development between implantation and the formation of the egg cylinder. FGFR2 contributes to the outgrowth, differentiation, and maintenance of the inner cell mass.
Proceedings of the National Academy of Sciences of the United States of America, 95(9), 5082-5087 (1998-06-06)
We disrupted the fibroblast growth factor (FGF) receptor 2 (FGFR2) gene by introducing a neo cassette into the IIIc ligand binding exon and by deleting a genomic DNA fragment encoding its transmembrane domain and part of its kinase I domain.
American journal of human genetics, 70(2), 472-486 (2002-01-10)
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone
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