Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
Abstract
We report a case of a 19-year-old male with the cardinal features of the Kabuki syndrome (KS) and, in addition, with severe immunodeficiency. Finding immune deficiency in a KS patient, prompted us to determine whether this association was related to a deletion within the DiGeorge chromosomal region. Fluorescence in situ hybridization (FISH) with the Oncor probe N25(D22S75) revealed no deletion of 22q11.2 in the...
Paper Details
Title
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
Published Date
Jun 28, 2008
Journal
Volume
53
Issue
4
Pages
308 - 312
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