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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: Büki, Gergely, Zsigmond, Anna, Czakó, Márta, Szalai, Renáta, Antal, Gréta, Farkas, Viktor, Fekete, György, Nagy, Dóra, Széll, Márta, Tihanyi, Marianna, Melegh, Béla, Hadzsiev, Kinga, Bene, Judit
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2021
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8217751/
https://ncbi.nlm.nih.gov/pubmed/34168676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.673025
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars