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Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
BACKGROUND: Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibrom...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986306/ https://www.ncbi.nlm.nih.gov/pubmed/33757576 http://dx.doi.org/10.1186/s13023-021-01773-w |