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

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...

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Bibliographic Details
Main Authors: Ilenia Chillura, Giulia Angela Restivo, Simonetta Callari, Sabrina Cibella, Maria Michela D’Alessandro, Ciro Corrado, Mario Vallone, Vincenzo Antona, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Italian Journal of Pediatrics
Subjects:
Neurofibromatosis type 1
Renal artery aneurysm
Coil embolization
Hypertension
Online Access:https://doi.org/10.1186/s13052-022-01382-8

Internet

https://doi.org/10.1186/s13052-022-01382-8

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