Associated Papers
Identification of genetic subtypes in follicular lymphoma.
Shelton V et al.
Blood Cancer Journal, 2024
39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations
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
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H et al.
American Journal of Medical Genetics. Part A, 2020
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.
Marzollo A et al.
Journal of Clinical Immunology, 2018
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
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