Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

Naeim EhteshamMeysam MosallaeiMaryam BeheshtianShahrouz KhoshbakhtMahsa FadaeeRaheleh VazehanMehrshid Faraji ZonoozParvaneh KarimzadehKimia KahriziHossein Najmabadi

Published in: Archives of Iranian medicine (2022)

The results of this study broaden the molecular spectrum of channel pathogenic variants associated with different clinical presentations in individuals with ID and/or DD.

Keyphrases

intellectual disability
autism spectrum disorder
oxidative stress
genome wide
copy number
gene expression