Condition: Acrocephalosyndactylia
rs79184941
in
FGFR2
gene and
Acrocephalosyndactylia
PMID 10851026
2000 Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.