- The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
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Park SJ, Yoon CS, Park HW, Choi JR, Chung JS, Lee KA
- KMID: 1779212
- J Korean Med Sci.
- 2009 Aug;24(4):737-740.
- doi: 10.3346/jkms.2009.24.4.737
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother... -
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