title: [Genetic diagnosis of skeletal dysplasia].
abstract: Recent trend and current status of the genetic research on skeletal dysplasia are reviewed. Current problems of the genetic diagnosis of skeletal dysplasia are evaluated using pseudoachondroplasia-multiple epiphyseal dyaplasia spectrum of the disease and their disease genes as examples. Intimate communication and collaboration between clinicians and basic researchers are necessary for further advance of the genetic diagnosis of skeletal dysplasia.
authors.affiliation: RIKEN, Center for Genomic Medicine, Laboratory for Bone and Joint Diseases/Japanese Skeletal Dysplasia Consortium.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D001848:Bone Diseases, Developmental / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D006801:Humans; D025202:Molecular Diagnostic Techniques