Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

Henk van den Berg, Willem Hans Schreuder, Marjolijn Jongmans, Danielle van Bommel-Slee, Bart Witsenburg, Jan de Lange

Research output: Contribution to journalArticleAcademicpeer-review

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
Original languageEnglish
Pages (from-to)425-428
JournalEuropean Journal of Medical Genetics
Volume59
Issue number8
DOIs
Publication statusPublished - 2016

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