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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Pediatric Society
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198956/ https://www.ncbi.nlm.nih.gov/pubmed/25324867 http://dx.doi.org/10.3345/kjp.2014.57.9.410 |