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

Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael J. Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne P. M. McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E. Morton, Christine OleyNicole Revencu, Soo-Mi Park, Sally J. Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne W. K. Lam, John Tolmie, Shehla N. Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep C. Vasudevan, Sixto Garcia-Minaur, Alex Henderson, Judith Goodship, Michael J. Wright, Richard Fisher, Richard Gibbons, Susan M. Price, Deepthi C. de Silva, I. Karen Temple, Amanda L. Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton-Smith, Graeme C. Black, Dian Donnai

    Research output: Contribution to journal › Article › peer-review

    118 Citations (Scopus)

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