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...

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Detalles Bibliográficos
Autores principales: Moramarco, Antonietta, Mallone, Fabiana, Sacchetti, Marta, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Lambiase, Alessandro, Giustini, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
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

Internet

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

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