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Article

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.

American journal of human genetics - 1 Apr 2000

Taylor M D, Gokgoz N, Andrulis I L, Mainprize T G, Drake J M, Rutka J T

Abstract excerpt

We have identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous system (CNS) malignant rhabdoid tumor (a subset of primitive neuroectodermal tumors, or PNET) and choroid plexus carcinoma. Various hereditary tumor syndromes, including Li-Fraumeni syndrome, Gorlin syndrome, and Turcot syndrome, have been linked to increased risk of developing CNS...

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Identifiers

PMID: 10739763
DOI: 10.1086/302833
PMCID: PMC1288204

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