TY  - JOUR
AU  - Chiu, Celine
AU  - Loth, Stefanie
AU  - Kuhlen, Michaela
AU  - Ginzel, Sebastian
AU  - Schaper, Jörg
AU  - Rosenbaum, Thorsten
AU  - Pietsch, Torsten
AU  - Borkhardt, Arndt
AU  - Hoell, Jessica I
TI  - Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
JO  - Familial cancer
VL  - 18
IS  - 3
SN  - 1389-9600
CY  - Dordrecht [u.a.]
PB  - Springer Science + Business Media B.V
M1  - DZNE-2020-07071
SP  - 353-358
PY  - 2019
AB  - 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
KW  - Cafe-au-Lait Spots: genetics
KW  - Cerebellar Neoplasms: genetics
KW  - Child, Preschool
KW  - Consanguinity
KW  - DNA-Binding Proteins: genetics
KW  - Fatal Outcome
KW  - Humans
KW  - Male
KW  - Medulloblastoma: genetics
KW  - Minor Histocompatibility Antigens: genetics
KW  - Pedigree
KW  - Point Mutation
KW  - Syndrome
KW  - DNA-Binding Proteins (NLM Chemicals)
KW  - Minor Histocompatibility Antigens (NLM Chemicals)
KW  - SON protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:30680470
DO  - DOI:10.1007/s10689-019-00121-z
UR  - https://pub.dzne.de/record/140749
ER  -