Associated Papers
A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.
Deng Y et al.
Birth Defects Research, 2025
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.
Zhou F et al.
Molecular Biology Reports, 2024
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Yang Q et al.
Molecular Genetics & Genomic Medicine, 2024
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL et al.
Journal of Medical Genetics, 2020
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