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Article

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

American journal of medical genetics. Part A - 1 Aug 2013

Rankin Julia, Short John, Turnpenny Peter, Castle Bruce, Hanemann C Oliver

Abstract excerpt

Medulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which...

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Source

Identifiers

PMID: 23813970
DOI: 10.1002/ajmg.a.36005

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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