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Original Article

Neurofibromatosis type 1: a single center's experience in Korea

Min Jeong Kim, Chong Kun Cheon

Clin Exp Pediatr. 2014;57(9):410-415. Published online September 30, 2014

Crossref 8

Purpose

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.

Methods

A total of 42 patients, 14 females and 28 males, were enrolled...

DOI: https://doi.org/10.3345/kjp.2014.57.9.410

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