Associated Papers
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E et al.
European Journal of Human Genetics : Ejhg, 2023
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.
Lintas C et al.
Genes, 2022
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC et al.
Bmc Neurology, 2021
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