Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review

Abstract Noonan syndrome (NS) is a RASopathy, a disorder caused by genetic alterations involving the Ras/mitogen-activated protein kinase pathway. It causes characteristic clinical manifestations, including facial dysmorphism and congenital cardiac defects. Occasionally, lymphoedema and recurrent ce...

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Bibliographic Details
Main Authors: Yuki Kobayashi, Takeya Adachi, Umi Tahara, Moemi Tanaka, Hiroki Arakawa, Yohei Funatsu, Kazunori Moritani, Mamiko Yamada, Kenjiro Kosaki, Toyoko Inazumi
Format: Article
Language:English
Published: Nature Publishing Group 2025-06-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-025-00315-1
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