Article

A TALS-like<i>RTTN</i>mutation impedes neural rosette formation in human cortical organoids

2024-04-03

Abstract excerpt

The Taybi-Linder syndrome (TALS) is a rare genetic disorder characterized by a severe microcephaly with abnormal gyral pattern, severe growth retardation, bone abnormalities and a reduced life span for the most severe cases. It is caused by mutations in RNU4ATAC whose transcript, the small nuclear RNA U4atac, is a core component of the minor spliceosome involved in the excision of minor introns spread over ∼750 ge...

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Literature Corpus work: 6e7f40e1-d7b7-5dbb-9d16-b267db5a6112
DOI: 10.1101/2024.04.03.24303866

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