Mosaicism and incomplete penetrance of PCDH19 mutations

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 mu...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Liu, Aijie, Yang, Xiaoxu, Yang, Xiaoling, Wu, Qixi, Zhang, Jing, Sun, Dan, Yang, Zhixian, Jiang, Yuwu, Wu, Xiru, Wei, Liping, Zhang, Yuehua
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Somatic Mosaicism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6581080/
https://ncbi.nlm.nih.gov/pubmed/30287595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-105235
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