Fgfr2 (fibroblast growth factor receptor 2)

基因基本信息

Fgfr2 基因表型（MGI）

Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. Heterozygosity for the p.C361Y Crouzon syndrome-associated mutation leads to various craniofacial dysmorphologies such as premature coronal suture closing and short face and head.

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