Article

Congenital heart defects in Down syndrome are caused by increased dosage of DYRK1A

2023-09-19

Abstract excerpt

Down syndrome (DS), trisomy 21, is a gene dosage disorder which results in multiple phenotypes including congenital heart defects (CHD). This clinically important pathology is caused by a third copy of one or more of the ∼230 genes on human chromosome 21 (Hsa21), but the identity of the causative dosage-sensitive genes is unknown and hence pathological mechanisms remain obscure. We show that embryonic hearts from...

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Literature Corpus work: ac0830c8-fa95-51c8-81c0-e50f28da40e9
DOI: 10.1101/2023.09.18.558244

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