Developmental BiologybioRxivPreprint
Mis-splicing of Mdm2 leads to increased P53-activity and craniofacial defects in a MFDM Eftud2 mutant mouse model
M.-C. Beauchamp, Anissa Djedid, Eric Bareke…·Loydie Anne Jerome‐Majewska
This study shows that EFTUD2 mutations cause mis-splicing of Mdm2, leading to increased P53 activity and craniofacial defects, which can be mitigated by P53 inhibitors.
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