Orthopaedic Manifestations of Neurofibromatosis Type I.

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a congenital disease which is caused by mutations in the NF1 gene on chromosome 17, resulting in an altered function of the neurofibromin protein. Owing to the ubiquitous expression of this protein, this syndrome is associated with pathology in many organ systems of the body, especially the central and peripheral nervous, musculoskeletal, and integumentary systems. This review...

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