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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Detalles Bibliográficos
Autores principales: Carvalhal, Sara, Bader, Ingrid, Rooimans, Martin A., Oostra, Anneke B., Balk, Jesper A., Feichtinger, René G., Beichler, Christine, Speicher, Michael R., van Hagen, Johanna M., Waisfisz, Quinten, van Haelst, Mieke, Bruijn, Martijn, Tavares, Alexandra, Mayr, Johannes A., Wolthuis, Rob M. F., Oliveira, Raquel A., de Lange, Job
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8769543/
https://www.ncbi.nlm.nih.gov/pubmed/35044816
http://dx.doi.org/10.1126/sciadv.abk0114

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