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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Detalles Bibliográficos
Autores principales: Jeong, Changhoon, Lee, Jae Young, Kim, Jiyeon, Chae, Hyojin, Park, Hae-il, Kim, Myungshin, Kim, Ok-Hwa, Kim, Paul, Lee, Young Kee, Jung, Jongsun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236474/
https://www.ncbi.nlm.nih.gov/pubmed/25381065
http://dx.doi.org/10.1186/1471-2474-15-371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236474/
https://www.ncbi.nlm.nih.gov/pubmed/25381065
http://dx.doi.org/10.1186/1471-2474-15-371

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