Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

BACKGROUND: Multiple epiphyseal dysplasia is a common skeletal dysplasia characterized by mild short stature, early-onset osteoarthritis mainly involving the hip and knee joints, and abnormally small and/or irregular epiphyses. Multiple epiphyseal dysplasia is clinically and genetically heterogeneou...

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Bibliografiske detaljer
Udgivet i:BMC Musculoskelet Disord
Main Authors: Jeong, Changhoon, Lee, Jae Young, Kim, Jiyeon, Chae, Hyojin, Park, Hae-il, Kim, Myungshin, Kim, Ok-Hwa, Kim, Paul, Lee, Young Kee, Jung, Jongsun
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236474/
https://ncbi.nlm.nih.gov/pubmed/25381065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2474-15-371
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