Review
[Genetic diagnosis of skeletal dysplasia]
[Article in
Japanese]
Affiliations
- PMID: 18974454
Item in Clipboard
Review
[Genetic diagnosis of skeletal dysplasia]
[Article in
Japanese]
Clin Calcium.
2008 Nov.
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.
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