Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
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DOI: 10.1186/s13023-021-01773-w
Abstract: 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… read more here.
Keywords: hss; sign; neurofibromatosis type; hyperpigmented spots ... See more keywords