rhabdoid tumour predisposition syndrome type 1
rhabdoid tumour predisposition syndrome type 1
An inherited predisposition (OMIM:609322) to develop rhabdoid tumours, a highly malignant group of neoplasms that usually occur in early childhood.Molecular pathology
Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex with key roles in cell proliferation and differentiation, cause rhabdoid tumour predisposition syndrome type 1.