Clinical characterization of children and adolescents with NF1 microdeletions
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04717-0
Abstract: An estimated 5–11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and… read more here.
Keywords: clinical characterization; nf1 microdeletions; characterization children; children adolescents ... See more keywords
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.673025
Abstract: Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in NF1 gene, large deletions encompassing the NF1 gene and its flanking regions are responsible for the… read more here.
Keywords: nf1 microdeletions; genotype phenotype; deletion; atypical nf1 ... See more keywords