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
Genetic variants of the DLK1, KISS1R, MKRN3 genes in girls with precocious puberty.
Sazhenova EA et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
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
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM et al.
Human Reproduction (oxford, England), 2021
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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