Article
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
PLoS genetics - 1 Dec 2024
Guguin Justine, Chen Ting-Yu, Cuinat Silvestre, Besson Alicia, Bertiaux Eloïse, Boutaud Lucile, Ardito Nolan, Imaz Murguiondo Miren, Cabet Sara, Hamel Virginie, Thomas Sophie, Pain Bertrand, Edery Patrick, Putoux Audrey, Tang Tang K, Mazoyer Sylvie, Delous Marion
Abstract excerpt
Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, severe growth retardation and bone abnormalities. It is caused by pathogenic variants in the RNU4ATAC gene. Its transcript, the small nuclear RNA U4atac, is involved in the excision of ~850 minor introns. Here, we report a patient presenting with TALS features but no pathogenic...
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