Associated Papers
CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.
Nishijo T et al.
Journal of Neurochemistry, 2026
Isogenic iPSC-derived CTBP1 mutant neuronal cells exhibit neurodevelopmental defects.
Lee S et al.
Frontiers in Neuroscience, 2025
Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS.
Jafari Khamirani H et al.
Journal of Genetics, 2021
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