Article
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.
Human molecular genetics - 1 Nov 2015
Bianchi Laura, Gagliardi Assunta, Maruelli Silvia, Besio Roberta, Landi Claudia, Gioia Roberta, Kozloff Kenneth M, Khoury Basma M, Coucke Paul J, Symoens Sofie, Marini Joan C, Rossi Antonio, Bini Luca, Forlino Antonella
Abstract excerpt
Osteogenesis imperfecta (OI) is a heritable bone disease with dominant and recessive transmission. It is characterized by a wide spectrum of clinical outcomes ranging from very mild to lethal in the perinatal period. The intra- and inter-familiar OI phenotypic variability in the presence of an identical molecular defect is still puzzling to the research field. We used the OI murine model Brtl(+/-) to investigate...
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