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

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,...

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Veröffentlicht in:Genet Med
Hauptverfasser: Ottenhoff, Myrthe J., Rietman, André B., Mous, Sabine E., Plasschaert, Ellen, Gawehns, Daniela, Brems, Hilde, Oostenbrink, Rianne, van Minkelen, Rick, Nellist, Mark, Schorry, Elizabeth, Legius, Eric, Moll, Henriette A., Elgersma, Ype
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group US 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7200599/
https://ncbi.nlm.nih.gov/pubmed/32015538
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0752-2
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