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

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...

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Main Authors: Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal, Viktor Farkas, György Fekete, Dóra Nagy, Márta Széll, Marianna Tihanyi, Béla Melegh, Kinga Hadzsiev, Judit Bene
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Genetics
Subjects:
copy number variation
type-1 NF1 microdeletion
type-2 NF1 microdeletion
atypical NF1 microdeletion
17q11.2 deletion syndrome
array-CGH
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.673025/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.673025/full

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