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

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...

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Bibliografiske detaljer
Main Authors: Kim, Min Jeong, Cheon, Chong Kun
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Pediatric Society 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4198956/
https://ncbi.nlm.nih.gov/pubmed/25324867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.9.410
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