Article
Increased p21 expression in chondrocytes of achondroplasic children independently from the presence of the G380R FGFR3 mutation.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association - 1 Sept 2009
Parafioriti Antonina, del Bianco Silvia, Barisani Donatella, Armiraglio Elisabetta, Peretti Giovanni, Albisetti Walter
Abstract excerpt
BACKGROUND: Achondroplasia (ACH) represents the major cause of dwarfism and is due to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. The cellular mechanisms involved in the reduced growth have been mainly described for in vitro or in vivo models, but few data have been obtained for humans. METHODS: Thirteen children with ACH were enrolled in the study; the presence of FGFR3 mutations was...
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