Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation

MeSH terms

• Child, Preschool
• DNA Mutational Analysis
• Family
• Female
• Frameshift Mutation
• Ganglioneuroma / genetics*
• Ganglioneuroma / pathology
• Humans
• Introns / genetics
• Mutation
• Neurofibromatosis 1 / genetics*
• Neurofibromatosis 1 / pathology
• Neurofibromin 1 / genetics
• RNA Splicing
• Spinal Neoplasms / genetics*
• Spinal Neoplasms / pathology