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Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive genu varum, and waddling ga...
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| Publié dans: | Radiol Case Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7553887/ https://ncbi.nlm.nih.gov/pubmed/33082897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.radcr.2020.08.005 |
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