The absence that makes the difference: choroidal abnormalities in Legius syndrome
Sign Up to like & getrecommendations! 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 café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients… read more here.
Keywords: makes difference; absence makes; choroidal abnormalities; nf1 ... See more keywords
Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool?
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12873
Abstract: The best known café‐au‐lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café‐au‐lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of… read more here.
Keywords: abnormalities caf; lait syndromes; tool; caf lait ... See more keywords
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study
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DOI: 10.3390/cancers14061423
Abstract: Simple Summary Choroidal abnormalities (CAs) have recently been introduced as one of the criteria for the diagnosis of neurofibromatosis type 1 (NF1). The aim of the present study was to assess the natural history of… read more here.
Keywords: study; natural history; choroidal abnormalities; cas ... See more keywords