Article

DYRK1A kinase triplication is the major cause of Otitis Media in Down Syndrome

2024-10-03

Abstract excerpt

Down syndrome (DS), which arises from trisomy of the whole or part of chromosome 21 (Hsa21), is one of the most common genetic abnormalities in humans. DS manifests as a broad spectrum of phenotypic features, including hearing loss due to otitis media with effusion (OME), affecting around 50% of children with DS. We employed a panel of mouse models of DS comprising a nested series of duplications covering the regi...

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Literature Corpus work: bf92a021-28af-5f28-8947-ca2bf56e226a
DOI: 10.1101/2024.10.03.616443

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