Article
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
Clinical genetics - 1 May 2013
Banka S, Howard E, Bunstone S, Chandler K E, Kerr B, Lachlan K, McKee S, Mehta S G, Tavares A L T, Tolmie J, Donnai D
Abstract excerpt
Kabuki syndrome (KS) is a rare multi-system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning disability. It is caused by MLL2 point mutations in the majority of the cases and, rarely by deletions involving KDM6A. Nearly one third of cases remain unsolved. Here, we expand the known genetic basis of KS by presenting five typical patients with the...
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