Article

<i>NUBP2</i>deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

2025-01-17

Abstract excerpt

Microcephaly affects 1 in 2,500 babies per year. Primary microcephaly results from aberrant neurogenesis leading to a small brain at birth. This is due to altered patterns of proliferation and/or early differentiation of neurons. Premature differentiation of neurons is associated with defects in the centrosome and/or primary cilia. In this study, we report on the first patients identified with NUBP2 -deficiency an...

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Literature Corpus work: a0b7116b-40b2-5f6a-ad04-08290b2ab9ba
DOI: 10.1101/2025.01.16.25320041

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