Article

A Case Report of Neurofibromatosis Type 1 Caused by NF1 Gene Mutation

2026-05-19

Abstract excerpt

<title>Abstract</title> <p> Background Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder caused by pathogenic variants in the NF1 tumor suppressor gene at 17q11.2. The gene encodes neurofibromin, a negative regulator of RAS signaling, yet the molecular basis of the striking clinical variability remains incompletely elucidated. Approximately half of cases arise from de novo mutations....

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Literature Corpus work: 0f61d185-fec4-5497-9d1b-2e202a4d173c
DOI: 10.21203/rs.3.rs-9521398/v1

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