[Genetic basis for skeletal disease. Nosology and molecular classification of skeletal dysplasias].
Skeletal dysplasias are a phenotypically and genetically heterogeneous group of disorders. Recent versions of the "nosology and classification of genetic skeletal disorders" have been based on the concept that disorders with similar clinical and radiographic abnormalities would have similar molecular bases. However, growing genetic/molecular evidence indicates that this is not necessarily the case. On the other hand, a molecular-pathogenic approach would be more appropriate to understand the pathophysiology behind these diseases and to facilitate research. Future revisions would need to integrate these two different strategies.
Namba
Noriyuki
N
Department of Pediatrics, Osaka University Graduate School of Medicine.
D001848:Bone Diseases, Developmental / Q000145:classification* / Q000235:genetics*; D006801:Humans; D007391:International Cooperation