A Report of an Indian Boy with a Delayed Diagnosis of Pseudochondroplasia

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...

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Bibliographic Details
Main Authors: Ankur Singh, T Abiramalatha, Gaurav Pradhan, Dong- Kyu Jin, Seema Kapoor
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2013-07-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
pseudochondroplasia
multiple epiphyseal dysplasia
comp gene
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

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