Associated Papers
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Imagawa E et al.
Clinical Genetics, 2023
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S et al.
American Journal of Human Genetics, 2020
32243864 (PubMed )
Supplement: mmc2.xlsx › Table_S9-Testing_Cohorts
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.
Score J et al.
Blood, 2012
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