Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Published on Sep 1, 2010in Nature Genetics27.603
· DOI :10.1038/NG.646
Sarah B. Ng14
Estimated H-index: 14
(UW: University of Washington),
Abigail W. Bigham25
Estimated H-index: 25
(UW: University of Washington)
+ 18 AuthorsJay Shendure135
Estimated H-index: 135
(UW: University of Washington)
Jay Shendure and colleagues report exome sequencing of ten individuals with Kabuki syndrome. They identify mutations in MLL2, encoding a Trithorax-group histone methyltransferase, as causal for this rare autosomal dominant malformation disorder.
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