%0 Journal Article
%A Chiu, Celine
%A Loth, Stefanie
%A Kuhlen, Michaela
%A Ginzel, Sebastian
%A Schaper, Jörg
%A Rosenbaum, Thorsten
%A Pietsch, Torsten
%A Borkhardt, Arndt
%A Hoell, Jessica I
%T Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
%J Familial cancer
%V 18
%N 3
%@ 1389-9600
%C Dordrecht [u.a.]
%I Springer Science + Business Media B.V
%M DZNE-2020-07071
%P 353-358
%D 2019
%X Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62
%K Cafe-au-Lait Spots: genetics
%K Cerebellar Neoplasms: genetics
%K Child, Preschool
%K Consanguinity
%K DNA-Binding Proteins: genetics
%K Fatal Outcome
%K Humans
%K Male
%K Medulloblastoma: genetics
%K Minor Histocompatibility Antigens: genetics
%K Pedigree
%K Point Mutation
%K Syndrome
%K DNA-Binding Proteins (NLM Chemicals)
%K Minor Histocompatibility Antigens (NLM Chemicals)
%K SON protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:30680470
%R 10.1007/s10689-019-00121-z
%U https://pub.dzne.de/record/140749