The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis

Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-β1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a hist...

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Detalles Bibliográficos
Autores principales: Park, Seo-Jin, Yoon, Choon Sik, Park, Hui-Wan, Choi, Jong Rak, Chung, Jong Shin, Lee, Kyung-A
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719210/
https://www.ncbi.nlm.nih.gov/pubmed/19654961
http://dx.doi.org/10.3346/jkms.2009.24.4.737

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719210/
https://www.ncbi.nlm.nih.gov/pubmed/19654961
http://dx.doi.org/10.3346/jkms.2009.24.4.737

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