Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-specific features. The identified mutations cause varia...

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Bibliographic Details
Main Author: Carvalhal, Sara (author)
Other Authors: Bader, Ingrid (author), Rooimans, Martin A. (author), Oostra, Anneke B. (author), Balk, Jesper A. (author), Feichtinger, René G. (author), Beichler, Christine (author), Speicher, Michael R. (author), van Hagen, Johanna M. (author), Waisfisz, Quinten (author), van Haelst, Mieke (author), Bruijn, Martijn (author), Tavares, Alexandra (author), Mayr, Johannes A. (author), Wolthuis, Rob M. F. (author), Oliveira, Raquel A. (author), de Lange, Job (author)
Format: article
Language:eng
Published: 2022
Subjects:
Mosaic variegated aneuploidy
Spindle assembly checkpoint
Topoisomerase-II
Kinetochore
Online Access:http://hdl.handle.net/10400.1/18028
Country:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/18028

Internet

http://hdl.handle.net/10400.1/18028

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