Article
Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.
Clinical genetics - 1 Nov 2017
Gripp K W, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L
Abstract excerpt
Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age-dependent criteria, with bilateral vestibular schwannoma and/or a constitutional NF2 mutation representing exclusion criteria. Following SMARCB1 germline mutations, constitutional mutations in LZTR1 were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately...
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