Kabuki (Niikawa‐Kuroki) syndrome associated with immunodeficiency

doi:10.1111/j.1399-0004.1998.tb02702.x

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Kabuki (Niikawa‐Kuroki) syndrome associated with immunodeficiency

1 Apr 1998

Abstract excerpt

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...

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PMID: 9650771
DOI: 10.1111/j.1399-0004.1998.tb02702.x

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