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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Detalhes bibliográficos
Autor principal: Carvalhal, Sara (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2022
Assuntos:
Mosaic variegated aneuploidy
Spindle assembly checkpoint
Topoisomerase-II
Kinetochore
Texto completo:http://hdl.handle.net/10400.1/18028
País:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/18028

Texto Completo

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

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