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Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

✍ Scribed by Peter Kannu; Melita Irving; Salim Aftimos; Ravi Savarirayan

Book ID
107564197
Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
260 KB
Volume
469
Category
Article
ISSN
0009-921X

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## Abstract ## Objective To identify the genetic abnormality responsible for osteoarthritis (OA), avascular necrosis (AVN) of the femoral head, and Legg‐Calvé‐Perthes disease in a single family, and to determine factors responsible for the distinct phenotypes manifested by different family members