Genetic heterogeneity in skeletal dysplasias.
Certain skeletal dysplasias represent excellent examples of genetic heterogeneity. Clinical recognition of their individual characteristics is a fundamental prerequisite for an understanding of their pathogenetic mechanisms and for the identification of their basic molecular defects.
D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000235:genetics; D009085:Mucopolysaccharidosis IV / Q000235:genetics; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype