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<i>ASXL1</i> mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures

2022-12-16

Abstract excerpt

De novo , truncating variants of ASXL1 cause two distinct disorders: Bohring-Opitz Syndrome (BOS, OMIM #605039) a rare pediatric disorder characterized by multiorgan anomalies that disrupt normal brain, heart, and bone development causing severe intellectual disability or are somatic driver mutations causing acute myeloid leukemia(AML). Despite their distinct clinical presentations, we propose that ASXL1 mutatio...

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Identifiers and source

Literature Corpus work
27ad2153-26bc-5cd3-a59b-5e05de4a2eca
DOI
10.1101/2022.12.15.519823
Open publication

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