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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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2025-06-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-025-00315-1 |
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