Associated Papers
Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.
Qu X et al.
British Journal of Haematology, 2024
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Rossini L et al.
Journal of Clinical Immunology, 2024
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2024
Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia.
Leonardi L et al.
Frontiers in Pediatrics, 2023
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