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

doi:https://doi.org/10.1016/j.ejmg.2016.05.013

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 journal › Article › Academic › peer-review

9 Citations (Scopus)

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 language	English
Pages (from-to)	425-428
Journal	European journal of medical genetics
Volume	59
Issue number	8
DOIs	https://doi.org/10.1016/j.ejmg.2016.05.013
Publication status	Published - 2016

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https://doi.org/10.1016/j.ejmg.2016.05.013

Cite this

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title = "Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines",

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",

author = "{van den Berg}, Henk and Schreuder, {Willem Hans} and Marjolijn Jongmans and {van Bommel-Slee}, Danielle and Bart Witsenburg and {de Lange}, Jan",

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pages = "425--428",

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AU - van den Berg, Henk

AU - Schreuder, Willem Hans

AU - Jongmans, Marjolijn

AU - van Bommel-Slee, Danielle

AU - Witsenburg, Bart

AU - de Lange, Jan

PY - 2016

Y1 - 2016

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AB - 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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DO - https://doi.org/10.1016/j.ejmg.2016.05.013

M3 - Article

C2 - 27238887

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