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Skeletal Dysplasia Presenting as a Neuromuscular Disorder – Report of a Family with Camurati-Engelmann Syndrome
We report the case of a 28-year-old female with progressive diaphyseal dysplasia, who presented with history of a similar neuromuscular condition. Clinical, radiological and molecular data confirmed Camurati-Engelmann Disease (CED). This is the first Romanian family who was diagnosed with CED.
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| Publicado no: | Maedica (Bucur) |
|---|---|
| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Media Med Publicis
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4496766/ https://ncbi.nlm.nih.gov/pubmed/26225150 |
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