Associated Papers
Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.
Yi S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.
Wang X et al.
Journal of Medical Genetics, 2024
HMG-boxes, ribosomopathies and neurodegenerative disease.
Moss T et al.
Frontiers in Genetics, 2023
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
Tinker RJ et al.
Molecular Genetics & Genomic Medicine, 2022
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