"Krej\u010D\u00ED, Pavel" . . "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 mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum."@en . "14"^^ . . "Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling"@en . "Krakow, D." . . "Chitayat, D." . "1"^^ . . . "Lyons, K. M." . . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . "10.1016/j.ajhg.2012.02.005" . . . "Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling" . . "RIV/68081707:_____/12:00389825!RIV13-AV0-68081707" . "Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling"@en . "Deixler, H." . . "Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling" . "0002-9297" . "Wilcox, W. R." . "American Journal of Human Genetics" . "Sarukhanov, A." . "Lachman, R. S." . . "APERT-SYNDROME; LADD SYNDROME; GROWTH"@en . "Idoni, B." . . "3" . . "Carmacho, N." . "Estrada, K. D." . "90" . "Merrill, A. E." . "8"^^ . "124726" . . "000301762800022" . "RIV/68081707:_____/12:00389825" . "Robinson, H." . "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 mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum." . . "[A4D334A8D391]" . "Curry, C. J." . "I, S, Z(AV0Z50040702)" . .