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Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification
1Adult Genetics Department, Toronto General Hospital, Ontario, Canada M5G 2C4. newman@mshri.on.ca
Clinical Genetics
|April 19, 2003
Abstract:
Identification of a number of the genes that cause skeletal dysplasias has helped clinicians to provide accurate diagnoses, genetic counseling, and pre-natal diagnosis for this complex group of disorders. This review considers how some of the recent advances in human and murine genetics have led to an increased understanding of normal bone development and, in particular, the processes of skeletal patterning and endochondral ossification.