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

• Hoofdauteurs: Francesca Mercadante (Auteur), Ettore Piro (Auteur), Martina Busè (Auteur), Emanuela Salzano (Auteur), Arturo Ferrara (Auteur), Gregorio Serra (Auteur), Cristina Passarello (Auteur), Giovanni Corsello (Auteur), Maria Piccione (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2022-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract 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...