Associated Papers
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ et al.
Human Molecular Genetics, 2012
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
Rousseau G et al.
Bmc Neurology, 2011
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