familial schwannomatosis
Synopsis
multiple schwannomas
no vestibular schwannomas (as in neurofibromatosis type 2, NF2)
Etiology
germline mutation of INI1/SMARCB1 (#17357086#)
References
Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007 Apr;80(4):805-10. PMID: #17357086#