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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.… Click to show full 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 choroidal abnormalities in syndromes with CALMs as a candidate tool for a more efficient diagnosis.
Keywords:
abnormalities caf;
lait syndromes;
tool;
caf lait;
choroidal abnormalities
Journal Title: Clinical Genetics
Year Published: 2017
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Journal Title: Clinical Genetics
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!