Associated Papers
Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.
Huang H et al.
Molecular Genetics and Genomics : Mgg, 2025
Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.
Zhang H et al.
Medicine, 2024
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.
St John M et al.
European Journal of Human Genetics : Ejhg, 2023
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