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receptor fibroblastového rastového faktora, typ 2

  1. Subject h.receptor fibroblastového rastového faktora, typ 2
    Subject h.Receptor, Fibroblast Growth Factor, Type 2
    English X referencesFibroblast Growth Factor Receptor 2
    Scope note in EnglishA fibroblast growth factor receptor which contains three extracellular IMMUNOGLOBULIN I-SET DOMAINS and is expressed as two isoforms. One receptor isoform is expressed in the MESENCHYME and is activated by FIBROBLAST GROWTH FACTOR 2. A second isoform is expressed mainly by EPITHELIAL CELLS and is activated by FIBROBLAST GROWTH FACTOR 7 and FIBROBLAST GROWTH FACTOR 10. Mutation of the gene for fibroblast growth factor receptor 2 can result in craniosynostotic syndromes (e.g., APERT SYNDROME; and CROUZON SYNDROME).
    See also reference (FX) in Slovak akrocefalosyndaktýlia
    fenotyp Antley-Bixlerovho syndrómu
    dyzostóza kraniofaciálna
    See also reference (FX) in English Acrocephalosyndactylia
    Antley-Bixler Syndrome Phenotype
    Craniofacial Dysostosis
    Links (3) - MeSH descriptor
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