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

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

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...

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Bibliographic Details
Main Authors: Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Italian Journal of Pediatrics
Subjects:
SOS1
K170E
Cutis verticis gyrata
Noonan syndrome
Case report
Online Access:https://doi.org/10.1186/s13052-022-01340-4

Internet

https://doi.org/10.1186/s13052-022-01340-4

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