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Article

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.

Pediatric pathology & molecular medicine - 1 Jan 2000

Chapman Kathryn L, Briggs Michael D, Mortier Geert R

Abstract excerpt

This review reports on multiple epiphyseal dysplasia (MED), first described clinically in the early part of the 20th century. Over 50 years later, we are now beginning to unravel the mystery behind the genetic mutations involved in triggering the changes in cartilage observed in this condition. In the past decade considerable progress has been made in identifying the underlying genetic defect in some forms of...

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Identifiers

PMID: 12687890
DOI: 10.1080/pdp.22.1.53.75

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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