Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.

Abstract excerpt

Neurofibromatosis Type 1 (NF1), an autosomal dominant genetic disorder, is characterized by extensive clinical variability, posing significant challenges for prognosis and patient management. Despite being caused by mutations in a single gene, NF1, the expressivity of the disease ranges from mild cutaneous manifestations to severe, life-threatening complications, including malignant tumors, skeletal deformities,...

Topics

• Humans
• Neurofibromatosis 1
• Phenotype
• Neurofibromin 1
• Mutation
• Signal Transduction