Mosaicism and incomplete penetrance of PCDH19 mutations

摘要

Mutations in the We aimed to investigate the occurrence of mosaic Two male patients with mosaic Five mosaic individuals, four males and one female, were identified in total. Mosaic variant was confirmed in multiple somatic tissues from one male patient and in blood from the other male patient. Among 22 female patients harbouring a newly occurred Our study provides new insights into phenotype-genotype correlations in.