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Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable ...
Carvalhal, Sara; Bader, Ingrid; Rooimans, Martin A.; Oostra, Anneke B.; Balk, Jesper A.; Feichtinger, René G.; Beichler, Christine; Speicher, Michael R.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 variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects. Both patients...
Date: 2022
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Origin: Sapientia - Universidade do Algarve