Associated Papers
Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.
Gatsis A et al.
Molecular Syndromology, 2025
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset
Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.
Rosenfeld E et al.
Journal of the Endocrine Society, 2024
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