title: Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation.
authors.forename: P
authors.initials: P
authors.lastname: Kannu
authors.forename: M
authors.initials: M
authors.lastname: Nour
authors.forename: M
authors.initials: M
authors.lastname: Irving
authors.forename: J
authors.initials: J
authors.lastname: Xie
authors.forename: D
authors.initials: D
authors.lastname: Loder
authors.forename: J
authors.initials: J
authors.lastname: Lai
authors.forename: O
authors.initials: O
authors.lastname: Islam
authors.forename: J
authors.initials: J
authors.lastname: MacKenzie
authors.forename: L
authors.initials: L
authors.lastname: Messiaen
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D005729:Ganglioneuroma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D025542:Neurofibromin 1 / Q000235:genetics; D012326:RNA Splicing; D013125:Spinal Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D025542:Neurofibromin 1