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Article

Hyperpigmented Spots at Fundus Examination: A New Ocular Sign in Neurofibromatosis Type I

2020-12-10

Abstract excerpt

<title>Abstract</title> <p><italic>Background</italic>: 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 neurofibromin, a protein with oncosuppressive activity, and it is 50 % sporadic or...

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Literature Corpus work
821cf1ac-aec5-5a2d-af29-5dde4916444e
DOI
10.21203/rs.3.rs-122662/v1
Open publication

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