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• W2894573526 abstract "We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the molecular basis of Kabuki Syndrome (KS) was known. The patient showcases the multisystemic features, with involvement of all previously associated with KS body systems, presence of immune deficiency as well as autoimmune disorders, requiring three pancreatic transplants. We also report, for the first time to our knowledge, the presence of epidural lipomatosis and Hodgkin Lymphoma in a patient with KS." @default.
• W2894573526 created "2018-10-12" @default.
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• W2894573526 date "2019-10-01" @default.
• W2894573526 modified "2023-09-28" @default.
• W2894573526 title "Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype" @default.
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• W2894573526 doi "https://doi.org/10.1016/j.clim.2018.09.013" @default.
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