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, wit...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2013-07-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/3167/59%20-%205410_PF1(M)_E(C)_F(T)_F1(V)_F1(T)_PF1(PUH)_PFA(H)_1.pdf |