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Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

Background Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature. Here we report on a 6-generation MED family with 17 affected members. Me...

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Detalles Bibliográficos
Autores principales: Dahlqvist, Johanna, Örlén, Hanna, Matsson, Hans, Dahl, Niklas, LÖnnerholm, Torsten, Gustavson, Karl-Henrik
Formato: Texto
Lenguaje:English
Publicado: Informa Healthcare 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823319/
https://www.ncbi.nlm.nih.gov/pubmed/19995321
http://dx.doi.org/10.3109/17453670903473032

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