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Article

ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.

Molecular genetics & genomic medicine - 1 Jul 2022

Yang Haiyan, Liao Hongmei, Gan Siyi, Xiao Ting, Wu Liwen

Abstract excerpt

BACKGROUND: The ARHGEF9 gene variants have phenotypic heterogeneity, the number of reported clinical cases are limited and the genotype-phenotype relationship is still unpredictable. METHODS: Clinical data of the patients and their family members were gathered in a retrospective study. The exome sequencing that was performed on peripheral blood samples was applied for genetic analysis. We used the ARHGEF9 gene as...

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PMID: 35638461
DOI: 10.1002/mgg3.1967
PMCID: PMC9266599

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