A novel NF1 mutation in a pediatric patient with renal artery aneurysm
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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-11-01
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Series: | Italian Journal of Pediatrics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13052-022-01382-8 |