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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

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

Genes

COMP
MATN3

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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