Identification of a novel mutation in RBM10 gene: A case report of TARP syndrome with deletion mutation
Background: RNA-binding motif protein 10 plays a crucial role in RNA splicing and is implicated in various human diseases, including Tracheoesophageal-Absent Radius-Polydactyly syndrome. Previously considered universally fatal in the early neonatal period, recent cases have demonstrated patients sur...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844025019632 |
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