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Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis
We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with t...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898183/ https://www.ncbi.nlm.nih.gov/pubmed/27307841 http://dx.doi.org/10.2484/rcr.v5i1.308 |