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Article

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

Birth defects research - 1 Nov 2025

Deng Ying, Bu Chenchen, Basang Zhuoma, Zhaxi Quzhen

Abstract excerpt

BACKGROUND: TNRC6B encodes a protein crucial for RNA silencing, and heterozygous variants of TNRC6B have been associated with developmental delay/intellectual disability, speech and language delay, fine and motor delay, and a range of neurobehavioral phenotypes, including autism and attention deficit and hyperactivity disorder (ADHD). Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting girls,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41147347
DOI: 10.1002/bdr2.2521

Genes

MECP2

Variants

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