Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders
Author:
Yap Chui-Sun,Jamuar Saumya Shekhar,Lai Angeline H.M.,Tan Ee-Shien,Ng Ivy,Ting Teck Wah,Tan Ene-Choo
Funder
National Medical Research Council
Subject
Genetics,General Medicine
Reference24 articles.
1. Banka, S., Veeramachaneni, R., Reardon, W., Howard, E., Bunstone, S., Ragge, N., Parker, M.J., Crow, Y.J., Kerr, B., Kingston, H., Metcalfe, K., Chandler, K., Magee, A., Stewart, F., McConnell, V.P., Donnelly, D.E., Berland, S., Houge, G., Morton, J.E., Oley, C., Revencu, N., Park, S.M., Davies, S.J., Fry, A.E., Lynch, S.A., Gill, H., Schweiger, S., Lam, W.W., Tolmie, J., Mohammed, S.N., Hobson, E., Smith, A., Blyth, M., Bennett, C., Vasudevan, P.C., Garcia-Minaur, S., Henderson, A., Goodship, J., Wright, M.J., Fisher, R., Gibbons, R., Price, S.M., D, C.d.S., Temple, I.K., Collins, A.L., Lachlan, K., Elmslie, F., McEntagart, M., Castle, B., Clayton-Smith, J., Black, G.C., Donnai, D., 2012. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur. J. Hum. Genet. 20, 381–388. 2. Mutation update for kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked kabuki syndrome subtype 2;Bogershausen;Hum. Mutat.,2016 3. Unmasking Kabuki syndrome;Bogershausen;Clin. Genet.,2013 4. wANNOVAR: annotating genetic variants for personal genomes via the web;Chang;J. Med. Genet.,2012 5. Kabuki syndrome: clinical and molecular characteristics;Cheon;Korean J. Pediatr.,2015
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