Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
作者： Henk van den Berg , Willem Hans Schreuder , Marjolijn Jongmans , Danielle van Bommel-Slee , Bart Witsenburg
DOI: 10.1016/J.EJMG.2016.05.013
关键词:
摘要: A patient with Noonan syndrome multiple lentigines (NSML) and giant cell lesions (MGCL) in mandibles maxillae is described. mutation p.Thr468Met the PTPN11-gene was found. This second reported NSML MGCL. Our case adds to assumption that, despite a different molecular pathogenesis effect on RAS/MEK pathway, shares development of MGCL, other RASopathies.
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