Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1107904
Abstract: Objective Albeit the gene of PCDH19-FE was ascertained, the correlation of gene mutation, PCDH19 protein structure, and phenotype heterogeneity remained obscure. This study aimed to report a five-generation pedigree of seven female patients of PCDH19-FE… read more here.
Keywords: genetic variants; pedigree pcdh19; five generation; analysis ... See more keywords