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• W2406440063 abstract "A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies." @default.
• W2406440063 created "2016-06-24" @default.
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• W2406440063 date "2016-08-01" @default.
• W2406440063 modified "2023-10-13" @default.
• W2406440063 title "Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines" @default.
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• W2406440063 doi "https://doi.org/10.1016/j.ejmg.2016.05.013" @default.
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