Neurofibromatosis 1: from lab bench to clinic

BA Ward, DH Gutmann - Pediatric neurology, 2005 - Elsevier
Neurofibromatosis type 1 is a common autosomal dominant disorder in which affected
children and adults develop both benign and malignant tumors. In addition to tumor
formation, children with neurofibromatosis type 1 may exhibit specific learning disabilities,
distinctive bony abnormalities, and hyperpigmented lesions (café-au-lait macules, skinfold
freckling, and Lisch nodules). With the identification of the neurofibromatosis 1 gene in 1990,
significant strides have been made towards elucidating the pathogenesis of specific clinical …