Article

Growth retardation associated with a novel DNMT3A variation in a Chinese boy: A Case Report

2023-07-28

Abstract excerpt

<h4>Background: </h4> The human gene DNMT3A (DNA methyltransferase 3 alpha) is involved in DNA de novo methylation essential for genome regulation and development. Pathogenic variants in DNMT3A are most commonly associated with variable overgrowth (such as Tatton-Brown-Rahman Syndrome, TBRS), intellectual disability, autism spectrum disorder (ASD) and acute myeloid leukemia (AML). We identified a de novo DNMT3A va...

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Literature Corpus work: 6040664b-ccd1-5ca8-9e33-8414483bd8f1
DOI: 10.21203/rs.3.rs-3144590/v1

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