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
The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.
L'Erario FF et al.
Genes & Diseases, 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
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA et al.
European Journal of Human Genetics : Ejhg, 2016
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Ciaccio C et al.
Cytogenetic and Genome Research, 2016
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