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Article

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

American journal of human genetics - 9 Mar 2012

Merrill Amy E, Sarukhanov Anna, Krejci Pavel, Idoni Brian, Camacho Natalia, Estrada Kristine D, Lyons Karen M, Deixler Hannah, Robinson Haynes, Chitayat David, Curry Cynthia J, Lachman Ralph S, Wilcox William R, Krakow Deborah

Abstract excerpt

Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in mice have shown that FGFR2 maintains a critical balance between the proliferation and differentiation of osteoprogenitor cells. We have identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor...

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Identifiers

PMID: 22387015
DOI: 10.1016/j.ajhg.2012.02.005
PMCID: PMC3309195

Genes

FGFR2

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