Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813673 | European Journal of Medical Genetics | 2016 | 4 Pages |
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.
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Authors
Henk van den Berg, Willem Hans Schreuder, Marjolijn Jongmans, Danielle van Bommel-Slee, Bart Witsenburg, Jan de Lange,