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

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  2. Dr Michael Wright
Author(s)Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Le Merrer M, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD
Publication type Article
JournalEuropean Journal of Human Genetics
Year2007
Volume15
Issue2
Pages150-154
ISSN (print)1018-4813
ISSN (electronic)1476-5438
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PublisherNature Publishing Group
URLhttp://dx.doi.org/10.1038/sj.ejhg.5201744
DOI10.1038/sj.ejhg.5201744
PubMed id17133256
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