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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Publicado en:Genet Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group US 2020
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Article
Acceso en liña: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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