Article
Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report.
Clinical laboratory - 1 Nov 2020
Yoo Soo Jin, Hwang Yong-Soon
Abstract excerpt
BACKGROUND: Neurofibromatosis (NF) is a genetic disorder, and neurofibromatosis types 1 and 2 have different genetic and clinical features. Herein, we present the clinical and genetic aspects of a patient carrying a constitutional NF1 gene mutation and whose neurocutaneous manifestations suggested a NF type 2 (NF2). METHODS: A 55-year-old woman presented with headache and deterioration of vision. Physical...
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