neurofibromatosis 2

neurofibromatosis 2
(NF2) an autosomal dominant disorder due to mutation in the NF2 gene (locus: 22q12.2), which encodes the cytoskeletal protein merlin (also called neurofibromin-2), which acts as a tumor suppressor. It is characterized by usually bilateral acoustic neuromas (q.v.), sometimes with skin changes like those seen in neurofibromatosis 1, central and peripheral nerve tumors, and presenile lens opacities. Called also bilateral acoustic neurinoma, neuroma, or neurofibromatosis, and central n.

Medical dictionary. 2011.

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