A novel NF1 mutation in a pediatric patient with renal artery aneurysm

• Main Authors: Ilenia Chillura (Author), Giulia Angela Restivo (Author), Simonetta Callari (Author), Sabrina Cibella (Author), Maria Michela D'Alessandro (Author), Ciro Corrado (Author), Mario Vallone (Author), Vincenzo Antona (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules...