Associated Papers
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
Faundes V et al.
Journal of Human Genetics, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L et al.
Orphanet Journal of Rare Diseases, 2011
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