Multiple Epiphyseal Dysplasia

Known as: DYSPLASIA EPIPHYSEAL MULTIPLE 
 
National Institutes of Health

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Bone Diseases, DevelopmentalCongenital osteodystrophyDyschondroplasiasEPIPHYSEAL DYSPLASIA, MULTIPLE, 4
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Papers overview

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2009
2009
Multiple epiphyseal dysplasia
BACKGROUND Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia… (More)
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2003
2003
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
Mutations in type 3 repeats of cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia… (More)
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Highly Cited
2001
Highly Cited
2001
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is clinically highly heterogeneous… (More)
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2000
2000
Multiple epiphyseal dysplasia – report of two families
Multiple epiphyseal dysplasia (MED) is a relatively uncommon inherited disorder of epiphyseal maturation. Affected individuals… (More)
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1998
1998
Stature and severity in multiple epiphyseal dysplasia.
We investigated the stature and radiological findings in 15 patients with multiple epiphyseal dysplasia (MED). They were divided… (More)
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1998
1998
The orthopaedic aspects of multiple epiphyseal dysplasia
Five cases of multiple epiphyseal dysplasia (MED) were treated from 1985–1996 at the Orthopaedics and Trauma Department of SSK… (More)
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Highly Cited
1995
Highly Cited
1995
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by… (More)
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1989
1989
Avascular necrosis of the hip in multiple epiphyseal dysplasia.
We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with… (More)
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