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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Vydáno v:Genet Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group US 2020
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On-line přístup: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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