Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
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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