Article
A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
Italian journal of pediatrics - 21 Nov 2022
Chillura Ilenia, Restivo Giulia Angela, Callari Simonetta, Cibella Sabrina, D'Alessandro Maria Michela, Corrado Ciro, Vallone Mario, Antona Vincenzo, Corsello Giovanni
Abstract excerpt
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 and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis,...
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