A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

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...

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Bibliographic Details

Published in:	PLoS Genetics
Main Authors:	Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, Alicia Besson, Eloïse Bertiaux, Lucile Boutaud, Nolan Ardito, Miren Imaz Murguiondo, Sara Cabet, Virginie Hamel, Sophie Thomas, Bertrand Pain, Patrick Edery, Audrey Putoux, Tang K Tang, Sylvie Mazoyer, Marion Delous
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2024-12-01
Online Access:	https://doi.org/10.1371/journal.pgen.1011517