Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome W...
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
About this item
Full title
Author / Creator
Hettmer, Simone , Dachy, Guillaume , Seitz, Guido , Agaimy, Abbas , Duncan, Catriona , Jongmans, Marjolijn , Hirsch, Steffen , Kventsel, Iris , Kordes, Uwe , de Krijger, Ronald R. , Metzler, Markus , Michaeli, Orli , Nemes, Karolina , Poluha, Anna , Ripperger, Tim , Russo, Alexandra , Smetsers, Stephanie , Sparber-Sauer, Monika , Stutz, Eveline , Bourdeaut, Franck , Kratz, Christian P. and Demoulin, Jean-Baptiste
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to
PDGFRB
germline v...
Alternative Titles
Full title
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
Authors, Artists and Contributors
Author / Creator
Dachy, Guillaume
Seitz, Guido
Agaimy, Abbas
Duncan, Catriona
Jongmans, Marjolijn
Hirsch, Steffen
Kventsel, Iris
Kordes, Uwe
de Krijger, Ronald R.
Metzler, Markus
Michaeli, Orli
Nemes, Karolina
Poluha, Anna
Ripperger, Tim
Russo, Alexandra
Smetsers, Stephanie
Sparber-Sauer, Monika
Stutz, Eveline
Bourdeaut, Franck
Kratz, Christian P.
Demoulin, Jean-Baptiste
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_DiVA_org_uu_469867
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_DiVA_org_uu_469867
Other Identifiers
ISSN
1389-9600,1573-7292
E-ISSN
1573-7292
DOI
10.1007/s10689-020-00204-2
