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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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| Pubblicato in: | Orphanet J Rare Dis |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2021
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| Soggetti: | |
| Accesso online: | 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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