Associated Papers
Childhood motor speech disorders: who to prioritise for genetic testing.
Van Niel H et al.
European Journal of Human Genetics : Ejhg, 2026
Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.
Ghasemi MR et al.
Molecular Genetics & Genomic Medicine, 2025
39835750 (PubMed )
Supplement: MGG3-13-e70057-s001.xlsx › splice_site
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
Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.
Hatch HAM et al.
The Febs Journal, 2022
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Carmignac V et al.
Clinical Genetics, 2020
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