Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
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DOI: 10.1126/sciadv.abk0114
Abstract: 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… read more here.
Keywords: chromosome segregation; biallelic bub1; mutations cause; bub1 mutations ... See more keywords