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...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Meng-Han Lin, Wei-Hsun Wang
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wolters Kluwer Medknow Publications 2025-07-01
סדרה:	Formosan Journal of Musculoskeletal Disorders
נושאים:	cartilage oligomeric matrix protein case report multiple epiphyseal dysplasia type 1 novel mutation
גישה מקוונת:	https://journals.lww.com/10.4103/fjmd.FJMD-D-24-00040
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!