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: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

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

12 Citaten (Scopus)

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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.

Originele taal-2	Engels
Pagina's (van-tot)	425-428
Aantal pagina's	4
Tijdschrift	European journal of medical genetics
Volume	59
Nummer van het tijdschrift	8
DOI's	https://doi.org/10.1016/j.ejmg.2016.05.013
Status	Gepubliceerd - 1 aug. 2016
Extern gepubliceerd	Ja

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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.",

keywords = "Giant cell granuloma, Giant cell tumor, LEOPARD syndrome, Lentigines, Mandible, Maxilla, Noonan syndrome",

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

note = "Publisher Copyright: {\textcopyright} 2016 Elsevier Masson SAS",

year = "2016",

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doi = "10.1016/j.ejmg.2016.05.013",

language = "English",

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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 - 2016/8/1

Y1 - 2016/8/1

N2 - 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.

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.

KW - Giant cell granuloma

KW - Giant cell tumor

KW - LEOPARD syndrome

KW - Lentigines

KW - Mandible

KW - Maxilla

KW - Noonan syndrome

UR - https://www.scopus.com/pages/publications/84973520201

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DO - 10.1016/j.ejmg.2016.05.013

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AN - SCOPUS:84973520201

SN - 1769-7212

VL - 59

SP - 425

EP - 428

JO - European journal of medical genetics

JF - European journal of medical genetics

IS - 8

ER -

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

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