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
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.
Silvia Beatriz Sanchez Marco et al.
Case Reports in Pediatrics, 2025
A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.
Zhang Q et al.
Frontiers in Genetics, 2024
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