Article

Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion

2026-03-05

Abstract excerpt

<h4>Background: </h4> TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have re-cently been associated with a neurodevelopmental disorder characterised by develop-mental delay, intellectual disability, and behavioural difficulties. <h4>Methods:</h4> We report a three-generation family with a 22q13.1 deletion encompa...

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Literature Corpus work: 286b8022-02bd-5836-8ca8-7058d8b7d4a6
DOI: 10.20944/preprints202603.0365.v1

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