Extending the nosology of the chondrodysplasias to the cellular and molecular levels.
Rapid advances in molecular genetics have created and will continue to create problems in the classification of human bone dysplasias. It is proposed that the functional significance of mutations be taken into account in future nosologies for these disorders. Chondrocyte culture and transgenic mouse strategies are briefly discussed as approaches to evaluating the functional consequences of chondrodysplasia mutations on skeletel development and growth.
Horton
W A
WA
Department of Pediatrics, Medical School, University of Texas-Houston 77225.
D000818:Animals; D002478:Cells, Cultured; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000145:classification / Q000235:genetics / Q000473:pathology; D010011:Osteocytes / Q000473:pathology