Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-
lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch …

The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …

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 …

Noonan syndrome is a relatively common, clinically variable developmental disorder.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism …

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 …

Abstract Neurofibromatosis 1 (NF1) is an autosomal dominant tumor predisposition
syndrome in which affected individuals have a greatly increased risk of developing …

The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known
ethnic groups in which NF1 does not occur or is unusually common. The prevalence is …

Abstract Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an
autosomal dominant condition caused by mutations of the NF1 gene, which is located at …

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 …