Abstract Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder
worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder …

Abstract Background Neurofibromatosis type 1 (NF1) is the most common neurocutaneous
disease and is caused by mutations in the NF1 gene. The most common clinical features of …

Materials and methods Patients. Genetic screening results for the NF1 gene of 24 patients
including 14 males (mean age 9.64±10.24) and 10 females (mean age 16.30±15.61) living …

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of
genetic counseling: Neurofibromatosis type 1 (NF1) is one of the most common autosomal …

Objective To investigate the variant spectrum and genotype–phenotype correlations in a
Turkish cohort with Neurofibromatosis Type‐1 (NF1). Materials and methods We …

Objective: Neurofibromatosis type 1 (NF1,# 162200) is a common neurological disorder with
de novo or inherited germline mutations of the Neurofibromin (NF1,* 613113). The purpose …

Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype |
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Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by
mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation …

Fundamento: las neurofibromatosis constituyen un grupo de enfermedades neurocutáneas,
de herencia autosómica dominante que muestran extrema heterogeneidad clínica y están …

Abstract Introduction Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder
characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone …