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Article

Mosaicism and incomplete penetrance of PCDH19 mutations

4 Oct 2018

Abstract excerpt

Background Mutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism. Objective We aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19-related epilepsy. Methods Two male patients with...

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PMID: 30287595
DOI: 10.1136/jmedgenet-2017-105235

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