Article

TAR syndrome causal gene <i>RBM8A</i> is critical for embryonic bone development and proper Hedgehog signaling

2026-04-23

Abstract excerpt

RNA-Binding Motif Protein 8A (RBM8A) is a core component of the exon junction complex (EJC), which plays a fundamental role in post-transcriptional RNA regulation. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome, characterized by reduced platelet number and radial defects. However, how its function contributes to bone development remains poorly understood. We found that RBM8A is hi...

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Literature Corpus work: d3e954b3-c13d-522b-af3f-2f9e75fbf645
DOI: 10.64898/2026.04.21.718480

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