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Article

<i>KAT6A</i> mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model

2023-06-18

Abstract excerpt

Arboleda-Tham Syndrome (ARTHS, OMIM#616268) is a rare neurodevelopmental disorder caused by de novo mutations in KAT6A . Individuals with ARTHS typically exhibit varying degrees of intellectual disability, speech and language deficits and clinical manifestations across multiple systems that lead to abnormal: vision, craniofacial features, cardiac morphology, and gastrointestinal function. To gain insight into th...

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Literature Corpus work
69858939-5c1c-572c-ba81-92175e2f9608
DOI
10.1101/2023.06.17.545322
Open publication

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<i>KAT6A</i> mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid modelDOI 10.1101/2023.06.17.545322
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