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

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 osse...

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Autores principales:	Chillura, Ilenia, Restivo, Giulia Angela, Callari, Simonetta, Cibella, Sabrina, D’Alessandro, Maria Michela, Corrado, Ciro, Vallone, Mario, Antona, Vincenzo, Corsello, Giovanni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9677909/ https://www.ncbi.nlm.nih.gov/pubmed/36411470 http://dx.doi.org/10.1186/s13052-022-01382-8

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