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Article

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

European journal of medical genetics - 1 Aug 2016

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 27238887
DOI: 10.1016/j.ejmg.2016.05.013

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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