Associated Papers
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
De Wachter M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Mir A et al.
Molecular Genetics & Genomic Medicine, 2023
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB et al.
Clinical Genetics, 2022
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