Spectrum of MLL2 (ALR) mutation in 110 cases of Kabuki Syndrome

 

Spectrum of MLL2"Herein we report on the results of screening MLL2 for mutations in 110 families with one or more individuals affected with Kabuki syndrome in order to: (1) characterize the spectrum of MLL2 mutations that cause Kabuki syndrome; (2) determine whether MLL2 genotype is predictive of phenotype; (3) assess whether the clinical characteristics of MLL2 mutationpositive cases differ from MLL2 mutation-negative cases; and (4) delineate the subset of Kabuki cases that are MLL2 mutation-negative for further gene discovery studies."
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