A large family with multiple epiphyseal
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van Mourik, Jan B.A.; Hamel, Ben C.J.; Mariman, Edwin C.M.
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Article
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1998
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John Wiley and Sons
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English
⚖ 82 KB
👁 2 views
We describe a large family, including 54 affected individuals, with multiple epiphyseal dysplasia (MED) with involvement of the peripheral joints only. In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints. Other involved joints are the