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Article

Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.

Neurogenetics - 19 Nov 2024

Nozari Ahoura, Babaahmadi Paria, Jalilian Narges, Sadeghi Taha, Hasani Mahdieh

Abstract excerpt

BACKGROUND: TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more important in neurodevelopmental mechanisms. This study aims to identify a novel genetic variant, associated with developmental delay and intellectual disability by analyzing a consanguineous...

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PMID: 39560797
DOI: 10.1007/s10048-024-00785-5

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Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.PMID 39560797Read ↗

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