Article
Mouse variants in Taf1c result in reduced survival to birth.
Developmental biology - 1 Dec 2025
Watts Jennifer L, Willeke Logan, Stottmann Rolf W
Abstract excerpt
Ribosome biogenesis is a key cellular function and disruptions in this process can lead to congenital anomalies or "ribosomopathies" with varying phenotypes including craniofacial malformations and neurodevelopment symptoms. Classically, the mouse is a robust model to understand the molecular mechanisms underlying ribosomopathies to further elucidate human pathogenesis. We identified novel compound heterozygous...
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