Article
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.
Molecular genetics & genomic medicine - 1 Apr 2022
Mosallaei Meysam, Ehtesham Naeim, Beheshtian Maryam, Khoshbakht Shahrouz, Davarnia Behzad, Kahrizi Kimia, Najmabadi Hossein
Abstract excerpt
BACKGROUND: Guanine nucleotide exchange factors (GEFs) play pivotal roles in neuronal cell functions by exchanging GDP to GTP nucleotide and activation of GTPases. We aimed to determine the genotype and phenotype spectrum of GEF mutations by collecting data from a large Iranian cohort with intellectual disability (ID) and/or developmental delay (DD). METHODS: We collected data from nine families with 20 patients...
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