| Literature DB >> 27238887 |
Henk van den Berg1, Willem Hans Schreuder2, Marjolijn Jongmans3, Danielle van Bommel-Slee4, Bart Witsenburg5, Jan de Lange2.
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.Entities:
Keywords: Giant cell granuloma; Giant cell tumor; LEOPARD syndrome; Lentigines; Mandible; Maxilla; Noonan syndrome
Mesh：
Year: 2016 PMID： 27238887 DOI： 10.1016/j.ejmg.2016.05.013
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708