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Germline

Authors :
Michal, Kovac
Connor, Woolley
Sebastian, Ribi
Claudia, Blattmann
Eva, Roth
Marco, Morini
Monika, Kovacova
Baptiste, Ameline
Andreas, Kulozik
Stefan, Bielack
Wolfgang, Hartmann
Mandy L, Ballinger
David M, Thomas
Ian, Tomlinson
Michaela, Nathrath
Karl, Heinimann
Daniel, Baumhoer
Source :
Journal of medical genetics. 58(1)
Publication Year :
2019

Abstract

Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone.We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenicAfter Li-Fraumeni-predisposing mutations in

Details

ISSN :
14686244
Volume :
58
Issue :
1
Database :
OpenAIRE
Journal :
Journal of medical genetics
Accession number :
edsair.pmid..........7704f7cb01c680417a2d2c885535832b