Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …

Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal
dominant pattern of inheritance. The complications are diverse and disease expression …

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:
2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two …

ABSTRACT Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders,
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …

Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and
cutaneous neurofibromas. No obvious relationships between small mutations (< 20 bp) of …

Purpose The incidence of neurofibromatosis 1 (NF1) is~ 1/2,000 live births, but the current
estimates of prevalence vary greatly. This retrospective total-population study was aimed at …

Objective: People with neurofibromatosis type 1 (NF1) have a 10% lifetime risk of
developing a malignant peripheral nerve sheath tumor (MPNST). MPNSTs are often …

Pruritus, also known as itch, is a very common, unpleasant sensation that elicits an urge to
scratch. Its origin is not always in the skin, and neuropathic itch that is caused by neuronal or …

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.
Met1149, p. Arg1276, or p. Lys1423, representing three nontruncating NF1 hotspots in the …

Abstract People with neurofibromatosis 1 (NF1) have multiple benign neurofibromas and a
10% lifetime risk of developing malignant peripheral nerve sheath tumors (MPNSTs). Most …