New insights on Noonan syndrome's clinical phenotype: a single center retrospective study

• Main Authors: Francesco Baldo (Author), Alice Fachin (Author), Beatrice Da Re (Author), Elisa Rubinato (Author), Marco Bobbo (Author), Egidio Barbi (Author)
• Format: Book
• Published: BMC, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in the pediatric population is most certainly underesti...