A mosaic state arises when pathogenic variants are acquired in certain cell lineages during
postzygotic development, and mosaic individuals may present with a generalized or …

Neurofibromatosis type 2 and related disorders : Current Opinion in Oncology
Neurofibromatosis type 2 and related disorders : Current Opinion in Oncology Log in or …

Abstract The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms
phakoma/phakomata (from the old Greek word “ϕαχοσ”= lentil, spot, lens-shaped) to define …

Genetic testing and management of individuals at risk for NF2‐related schwannomatosis is
complicated by the high rate of mosaicism resulting in a milder, later onset, more …

Background Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to
guide clinical trial design. Methods A prospective database of patients meeting NF2 …

Neurofibromatoses are made up of at least three autosomal dominantly inherited disorders,
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. For …

Background Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder
characterised by the development of multiple schwannomas, especially on vestibular …

NF2-related schwannomatosis (NF2-related SWN) is an autosomal dominant condition
caused by loss of function variants in the NF2 gene, which codes for the protein Merlin and …

Neurofibromatosis type 2 is an autosomal dominant tumor-prone disorder mainly caused by
NF2 point mutations or intragenic deletions. Few individuals with a complex phenotype and …

Abstract Background Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular
schwannoma (VS) more often in adults but a severe paediatric form with multiple …