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

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 m...

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Bibliografski detalji
Glavni autori: Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Wright, Michael J, Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D
Format: Artigo
Jezik:Inglês
Izdano: 2006
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2670452/
https://ncbi.nlm.nih.gov/pubmed/17133256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.ejhg.5201744
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