MLL2 and KDM6A Mutations in Patients with Kabuki Syndrome



An indepth study of 81 individuals with a clinical diagnosis of Kabuki.  Clinical comparisons were made between various groups -  MLL2 positive and negative groups, MLL2 and KDM6A groups, and MLL2 truncating and non-truncating types.  Although differences have emerged, the majority of clinical features are observed with similar frequency among both groups of mutations.  The genetic basis of the individuals who tested negative for both MLL2 and KDM6A still remains elusive.  

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