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; Pardington, Emily; Monaghan, Marie; Spaull, Robert; Fadilah, Ala; Kurian, Kathreena; Vijayakumar, Kayal; Smithson, Sarah; Majumdar, Anirban (Case reports in pediatrics, 2025)
Keywords: Ataxia; Diagnosis; DNA sequencing; Genetic screening; Genomes; Genomics; Health aspects; Nucleotide sequencing; Protein binding; whole genome sequencing; developmental delay; cerebellar ataxia; CTBP1; enamel defects; hypotonia