KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
KAT6A综合征:76例致病性KAT6A变异患者的基因型-表型相关性研究
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-018-0259-2
Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A L; Nibbeling, Esther; Dingemans, Alexander J M; Douine, Emilie D; Nelson, Stanley F; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A; Newbury-Ecob, Ruth