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 …

Neurofibromatosis (NF) type 1 (NF1), NF type 2 (NF2), and schwannomatosis constitute a
group of autosomal dominant tumor suppressor syndromes that predispose to benign and …

Dominantly inherited tumor-prone syndromes are a significant health burden, but disease-
related morbidity can be reduced and life expectancy increased by a GR type approach …

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

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

Abstract In 5‐10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions
that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent …

ABSTRACT Neurofibromatosis type 1 (NF 1) affects about one in 3,500 people in all ethnic
groups. Most NF 1 patients have private loss‐of‐function mutations scattered along the NF 1 …

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 …

Noonan syndrome (NS) is a relatively common, clinically variable and genetically
heterogeneous developmental disorder characterized by postnatally reduced growth …