This book brings together a cross-fertilization of ideas between human molecular genetics, developmental biology, tissue biology and the biochemistry of cell signalling pathways, in order to create new insights into the mechanisms of normal and abnormal skeletogenesis. This broad perspective is essential in order to understand the aetiology of genetic diseases affecting skeletal development at all levels from genotype to phenotype, i.e. from mutation to syndrome.

The book encompasses normal and abnormal skeletogenesis process by process, beginning with the signalling pathways that control early patterning events, then the molecular control of osteoblast, chondrocyte and osteoclast differentiation, joint formation and finally osteoclast activity. Each step takes into consideration the results of mouse gene cloning and knockout studies, human molecular genetics, and new mouse studies stimulated by the human information. Such an integrated approach is essential if this new understanding is to be applied for future therapeutic strategies.