How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

  1. Lookup NU author(s)
  2. Dr Sally Lynch
  3. Professor Judith Goodship
  4. Dr Michael Wright
  5. Dr Richard Fisher
Author(s)Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VPM, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WWK, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, Garcia-Minaur S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, de Silva DC, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D
Publication type Article
JournalEuropean Journal of Human Genetics
Year2012
Volume20
Issue4
Pages381-388
ISSN (print)1018-4813
ISSN (electronic)1476-5438
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PublisherNature Publishing Group
URLhttp://dx.doi.org/10.1038/ejhg.2011.220
DOI10.1038/ejhg.2011.220
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