Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weak...

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Detalles Bibliográficos
Autores principales: Chen, Yong, Xie, Wanqin, Hu, Feng, Chen, Jia, Zheng, Hexin, Zhou, Haiyan, Ni, Bin, Li, Wanmeng, Zhou, Jianda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355693/
https://www.ncbi.nlm.nih.gov/pubmed/27959412
http://dx.doi.org/10.3892/mmr.2016.6024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355693/
https://www.ncbi.nlm.nih.gov/pubmed/27959412
http://dx.doi.org/10.3892/mmr.2016.6024

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