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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

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  1. Article

    Open Access

    Male patients affected by mosaic PCDH19 mutations: five new cases

    Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mec...

    I. M. de Lange, P. Rump, R. F. Neuteboom, P. B. Augustijn, K. Hodges… in neurogenetics (2017)

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