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Article
Genetics & Heredity
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius et al.
Summary: The study revised the diagnostic criteria for neurofibromatosis type 1 (NF1) and established criteria for Legius syndrome (LGSS) by combining major developments in genetics, ophthalmology, dermatology, and neuroimaging. Consensus on minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS was reached, with recommendations for mosaic forms of these conditions. Continued refinement of these new criteria will be necessary to study their diagnostic properties, reconsider criteria not included, and identify new features of the conditions, hence proposing an initiative to periodically update the diagnostic criteria for NF1 and LGSS.
GENETICS IN MEDICINE (2021)
Review
Genetics & Heredity
Clinical and genetic aspects of neurofibromatosis 1
Kimberly Jett et al.
GENETICS IN MEDICINE (2010)