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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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| Publicado no: | Mol Med Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5355693/ https://ncbi.nlm.nih.gov/pubmed/27959412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.6024 |
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