The Spectrum of NF1 Gene Variations in Southeastern Turkey

Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.Mate...

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Bibliographic Details
Main Authors: Emre Kırat, Hatice Mutlu Albayrak
Format: Article
Language:English
Published: Galenos Yayinevi 2021-09-01
Series:Journal of Pediatric Research
Subjects:
nf1
Online Access: http://jpedres.org/archives/archive-detail/article-preview/the-spectrum-of-inf1-i-gene-variations-in-southeas/48644