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. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep; 42(9):790-3.

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subject areas

Abnormalities, Multiple
DNA-Binding Proteins
Gene Frequency
Genetic Predisposition to Disease
Humans
Mutation
Neoplasm Proteins
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Syndrome
Validation Studies as Topic

authors with profiles

Heidi Gildersleeve

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