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A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

✍ Scribed by Jirair K. Bedoyan; Marci M. Lesperance; Todd Ackley; Ramaswamy K. Iyer; Jeffrey W. Innis; Vinod K. Misra

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
431 KB
Volume
155
Category
Article
ISSN
1552-4825

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## Abstract Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset of osteoarthritis (OA) mainly in the hip and knee joints, and abnormally small and/or irregular epiphyses. MED is clinically and genetically heterogeneous. Six

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✍ van Mourik, Jan B.A.; Hamel, Ben C.J.; Mariman, Edwin C.M. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 82 KB πŸ‘ 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