Associated Papers
Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.
Gaudillière M et al.
Cureus, 2026
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
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