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Molecular Genetics of Pediatric Orthopaedic Disorders
Skeletal complications are frequent in neurofibromatosis type 1 (NF1). Various skeletal manifestations are observed including generalized osteopenia (low bone mass), scoliosis, long bone bowing, pseudarthrosis, bone lytic lesions, and sphenoid wing dysplasia. Historically, focal skeletal lesions in NF1 were suspected to be caused by nearby localized tumors. However, genetic experiments have brought an entirely new view of NF1 musculoskeletal pathology, illustrating the power of gene discoverydoi:10.1007/978-1-4939-2169-0_2 fatcat:6sczernrsrfajdmjg6pb6s4zga