Associated Papers
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2025
Selective targeting of TBXT with DARPins identifies regulatory networks and therapeutic vulnerabilities in chordoma.
Umbaugh CS et al.
Science Advances, 2025
Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene.
Alila-Fersi O et al.
Gene, 2024
A mutation in TBXT causes congenital vertebral malformations in humans and mice.
Chen S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Koparir A et al.
Human Genomics, 2024
Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay.
Jalessi M et al.
Journal of Clinical Laboratory Analysis, 2022
Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.
Feng X et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2021
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Lefebvre M et al.
Clinical Genetics, 2017
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