Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

doi:10.1038/sj.ejhg.5201744

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Article

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

European journal of human genetics : EJHG - 1 Feb 2007

Zankl Andreas, Jackson Gail C, Crettol Laureane Mittaz, Taylor Jacky, Elles Rob, Mortier Geert R, Spranger Jurgen, Zabel Bernhard, Unger Sheila, Merrer Martine Le, Cormier-Daire Valerie, Hall Christine M, Wright Michael J, Bonafe Luisa, Superti-Furga Andrea, Briggs Michael D

Abstract excerpt

Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the low-mutation detection rate was partially due to misdiagnosis. We therefore instituted a clinical-radiographic review system, whereby all cases were evaluated by a...

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Identifiers

PMID: 17133256
DOI: 10.1038/sj.ejhg.5201744
PMCID: PMC2670452

Genes

COMP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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