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Neurofibromatosis 1 (von Recklinghausen Disease)

25 Aug 2023

Abstract excerpt

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is one of the most common neurocutaneous genetic disorders. Loss of function of the NF1 gene results in overactivation of the RAS/MAPK pathway, leading to neurocutaneous manifestations and osseous abnormalities. Because of medical progress, molecular testing for NF1 after genetic counseling is now available in Japan. In addition, revised...

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PMID: 37635082
DOI: 10.2302/kjm.2023-0013-ir

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