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Article

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Pediatric radiology - 1 Feb 2005

Lachman Ralph S, Krakow Deborah, Cohn Daniel H, Rimoin David L

Abstract excerpt

This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, brachydactyly, and clubbed feet resultant from mutations in gene...

Topics

Cartilage Oligomeric Matrix Protein
Collagen Type IX
Extracellular Matrix Proteins
Glycoproteins
Humans
Matrilin Proteins
Mutation
Osteochondrodysplasias
Radiography

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15503005
DOI: 10.1007/s00247-004-1323-4

Genes

COMP
MATN3

Provenance

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