Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

BACKGROUND: Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to...

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Detalles Bibliográficos
Autores principales: Mercadante, Francesca, Piro, Ettore, Busè, Martina, Salzano, Emanuela, Ferrara, Arturo, Serra, Gregorio, Passarello, Cristina, Corsello, Giovanni, Piccione, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392323/
https://www.ncbi.nlm.nih.gov/pubmed/35986401
http://dx.doi.org/10.1186/s13052-022-01340-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392323/
https://www.ncbi.nlm.nih.gov/pubmed/35986401
http://dx.doi.org/10.1186/s13052-022-01340-4

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