Cargando…
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
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 development of the variable clinical phenotype...
Autores principales: | , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217751/ https://www.ncbi.nlm.nih.gov/pubmed/34168676 http://dx.doi.org/10.3389/fgene.2021.673025 |