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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

3 Feb 2020

Abstract excerpt

PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cognitive deficits. The NF1 cognitive phenotype is generally considered to be highly variable, possibly due to the observed T2-weighted hyperintensities, loss of heterozygosity, NF1-specific genetic modifiers, or allelic imbalance. METHODS: We investigated cognitive variability and assessed the contribution of genetic...

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PMID: 32015538
DOI: 10.1038/s41436-020-0752-2

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