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A Report of an Indian Boy with a Delayed Diagnosis of Pseudochondroplasia
The mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene are associated two common and allelic bony dysplasias: Psuedoachondroplasia (PSACH) and Multiple epiphyseal dysplasias-1 (MED-1). The characteristic radiological features of both has been well established in the literature, with ar...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
JCDR Research and Publications (P) Limited
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3749671/ https://ncbi.nlm.nih.gov/pubmed/23998101 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2013/5410.3167 |
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