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Epiphyseal dysplasia, multiple, 1

Known as: EDM1, MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED, Multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal dominant inheritanceAvascular Necrosis of Femur HeadKnee joint valgus deformity

Broader (1)

Osteochondrodysplasias

Papers overview

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2017
2017
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
104 introDuCtion Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, OMIM 600204; EDM3, OMIM 600969; EDM4, OMIM 226900… 
2013
2013
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia.
BACKGROUND Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the… 
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