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Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2017.78
Abstract: Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple cafĂ©-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients…
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Keywords:
makes difference;
absence makes;
choroidal abnormalities;
nf1 ... See more keywords