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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Moramarco, Antonietta, Mallone, Fabiana, Sacchetti, Marta, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Lambiase, Alessandro, Giustini, Sandra
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research
Online adgang: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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