Ontology highlight
ABSTRACT:
SUBMITTER: de Lange IM
PROVIDER: S-EPMC5522515 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
de Lange I M IM Rump P P Neuteboom R F RF Augustijn P B PB Hodges K K Kistemaker A I AI Brouwer O F OF Mancini G M S GMS Newman H A HA Vos Y J YJ Helbig K L KL Peeters-Scholte C C Kriek M M Knoers N V NV Lindhout D D Koeleman B P C BPC van Kempen M J A MJA Brilstra E H EH
Neurogenetics 20170701 3
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 oldest patient reported so far. All reported patients were selected for genetic testin ...[more]