Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Nature Genetics2010Vol. 42(9), pp. 790–793
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Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita E. Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure
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