Article
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
Clinical genetics - 1 Sept 2015
Lin J-L, Lee W-I, Huang J-L, Chen P K-T, Chan K-C, Lo L-J, You Y-J, Shih Y-F, Tseng T-Y, Wu M-C
Abstract excerpt
Kabuki or Niikawa-Kuroki syndrome (KS) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media. Fourteen patients from 12 unrelated families were enrolled in the 9-year study period (2005-2013). All had Kabuki faces, cleft palate,...
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