Article
Male patients affected by mosaic PCDH19 mutations: five new cases.
Neurogenetics - 1 Jul 2017
de Lange I M, Rump P, Neuteboom R F, Augustijn P B, Hodges K, Kistemaker A I, Brouwer O F, Mancini G M S, Newman H A, Vos Y J, Helbig K L, Peeters-Scholte C, Kriek M, Knoers N V, Lindhout D, Koeleman B P C, van Kempen M J A, Brilstra E H
Abstract excerpt
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 mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the...
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