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• W3137530812 abstract "We have summarized the abstract section as follows: We report a son and his father affected by Attention Deficit Hyperactivity Disorder (ADHD). They belonged to a larger cohort (116 ADHD children, 20 related parents, 77 controls) wholly genotyped forC9ORF72 expansion. Ten ADHD susceptibility genes were further investigated in the family. We revealed that son and father shared an intermediateC9ORF72 expansion and common variants inCDH23, ITGAE and MTRR. Bioinformatics highlighted aC9ORF72-MTRR interaction. This case-report underlines that in relatives with ADHD, carrying variants in ADHD susceptibility genes, the intermediateC9ORF72 repeats might have a potentially pathogenetic synergistic effect, supporting the multifactorial polygenic aetiopathogenetic profile of disease." @default.
• W3137530812 created "2021-03-29" @default.
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• W3137530812 date "2021-03-04" @default.
• W3137530812 modified "2023-09-24" @default.
• W3137530812 title "Intermediate lengths of the <i>C9ORF72</i> hexanucleotide repeat expansion may synergistically contribute to attention deficit hyperactivity disorder in child and his father: case report" @default.
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• W3137530812 doi "https://doi.org/10.1080/13554794.2021.1887275" @default.
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