Concepedia

Publication | Open Access

Mosaicism and incomplete penetrance of <i>PCDH19</i> mutations

DOIFull Paper Access

46

Citations

32

References

2018

Year

Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei,
Journal of Medical Genetics

Abstract

Our study provides new insights into phenotype-genotype correlations in <i>PCDH19</i> related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling.

References

YearCitations

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