Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of
tumors of the central or peripheral nervous system including the brain, spinal cord, organs …

Abstract Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with
multiple café-au-lait macules (CALM) which may either be present at birth or appear during …

Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …

Simple Summary In the last few years, an increasing number of genotype–phenotype
correlations has been described for neurofibromatosis type 1 (NF1), impacting on the clinical …

Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one
of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 …

Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder
neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause significant …

Neurofibromin controls many cell processes, such as growth, learning, and memory. If
neurofibromin is not working properly, it can lead to health problems, including issues with …

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition
syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations …

The majority of pathogenic mutations in the neurofibromatosis type I (NF1) gene reduce total
neurofibromin protein expression through premature truncation or microdeletion, but it is …