Publication:

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum (2012)

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

      • Date: 01-04-2012
      • Journal: European Journal of Human Genetics
      • Volume: 20
      • Issue: 4
      • Pages: 381-388
      • Publisher: Nature Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Kabuki syndrome MLL2 genetic heterogeneity mutation spectrum facial dysmorphism MENTAL-RETARDATION COMPLEX EARS

      Staff

      Dr Richard Fisher
      Associate Clinical Lecturer

      Professor Judith Goodship
      Professor of Medical Genetics

      Dr Michael Wright
      Associate Clinical Lecturer