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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...

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Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: Moramarco, Antonietta, Mallone, Fabiana, Sacchetti, Marta, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Lambiase, Alessandro, Giustini, Sandra
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7986306/
https://ncbi.nlm.nih.gov/pubmed/33757576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01773-w
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