ba0007p42 | (1) | ICCBH2019
Huma Zilla
, Mackinnon Natasha
, Aston Will
, Pollock Rob
Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus which codes for the α subunit of the Gs G-coupled protein receptor. In bone, impaired signalling results in impaired differentiation and proliferation of bone marrow stromal cells which are replaced by fibrous tissue resulting in bone fragility and dysplasia. All children diagnosed with Fibrous Dysplasia at The Royal National Orthopaedic Hospital since 2009 (103 childr...