Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB; Bigham AW; Buckingham KJ; Hannibal MC; McMillin MJ; Gildersleeve HI; Beck AE; Tabor HK; Cooper GM; Mefford HC; Lee C; Turner EH; Smith JD; Rieder MJ; Yoshiura K; Matsumoto N; Ohta T; Niikawa N; Nickerson DA; Bamshad MJ; Shendure J; Nature Genetics, 2010, vol. 42, issue 9, p 790, ISSN 15461718. ISBN 15461718.

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