• Media type: E-Article
  • Title: How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
  • Contributor: Banka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J; Crow, Yanick J; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P M; Donnelly, Deirdre E; Berland, Siren; Houge, Gunnar; Morton, Jenny E; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J; Fry, Andrew E; [...]
  • Published: Springer Science and Business Media LLC, 2012
  • Published in: European Journal of Human Genetics, 20 (2012) 4, Seite 381-388
  • Language: English
  • DOI: 10.1038/ejhg.2011.220
  • ISSN: 1018-4813; 1476-5438
  • Origination:
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  • Access State: Open Access