Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

(2011) Miriam J. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

(2011) Guillaume Rousseau et al.   BMC Neurology

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

(2009) C Boyd et al.   CLINICAL GENETICS