Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6

Affiliations

• ¹ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ² Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ³ Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ⁴ Department of Neuropathology, Institute of Pathology, Hannover Medical School, Hannover, Germany.
• ⁵ Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
• ⁶ University Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
• ⁷ Institute of Neuropathology, University Hospital Münster, Münster, Germany.
• ⁸ Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
• ⁹ Research Institute Children's Cancer Center Hamburg, Hamburg, Germany.