Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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DOI: 10.1038/s41436-019-0623-x
Abstract: Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency… read more here.
Keywords: registry study; 177 individuals; kabuki syndrome; manifestations kabuki ... See more keywords