title: Recent advances in molecular analysis of skeletal dysplasia.
abstract: Recent advances in molecular and cellular biology have contributed significantly to the elucidation of the pathogenesis of many kinds of skeletal dysplasia. The number of skeletal dysplastic diseases that are identified to have associated abnormalities in genes has increased. Some diseases such as achondroplasia, thanatophoric dysplasia and hypochondroplasia are shown to be allelic. In addition to those diseases associated with mutations of the fibroblast growth factor receptor 3 gene, the abnormalities in collagen, Gs alpha, vitamin D receptor and tissue nonspecific alkaline phosphatase genes are briefly reviewed in this article.
authors.affiliation: Department of Environmental Medicine, Osaka Medical Center, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ozono
mesh_terms: D003094:Collagen / Q000235:genetics; D019204:GTP-Binding Proteins / Q000235:genetics; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics*; D011110:Polymorphism, Genetic; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014808:Vitamin D Deficiency / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D003094:Collagen; D019204:GTP-Binding Proteins