Identification of a novel mutation in RBM10 gene: A case report of TARP syndrome with deletion mutation

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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Bibliographic Details
Main Authors: Xiaodan Chen, Wen Zhang, Yun ting Lin, Li Liu
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:Heliyon
Subjects:
RNA-Binding motif protein 10 (RBM10) gene
TARP syndrome
Deletion mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844025019632
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