A Taiwanese Patient with Multiple Epiphyseal Dysplasia Type 1 was Found to have Novel Mutation of Cartilage Oligomeric Matrix Protein: A Case Report

COMPopathies, caused by COMP gene mutations, include multiple epiphyseal dysplasia type 1 (MED type 1) and pseudoachondroplasia, typically manifesting as short stature, joint pain, hypermobility, and gait disturbances. While clinical and radiographic features guide initial diagnosis, genetic testing...

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Bibliographic Details

Published in:	Formosan Journal of Musculoskeletal Disorders
Main Authors:	Meng-Han Lin, Wei-Hsun Wang
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2025-07-01
Subjects:	cartilage oligomeric matrix protein case report multiple epiphyseal dysplasia type 1 novel mutation
Online Access:	https://journals.lww.com/10.4103/fjmd.FJMD-D-24-00040