Article
Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Clinical orthopaedics and related research - 1 Nov 2020
Min Byung-Joo, Kang Yong Koo, Chung Yang-Guk, Seo Myung-Eui, Chang Ki Bong, Joo Min Wook
Abstract excerpt
BACKGROUND: Schwannomatosis is a late-onset tumor predisposition syndrome associated with the development of many different types of malignancies. A relevant genetic mechanism can be explained by three mutational events. The first-hit mutation is a germline mutation, and the SMARCB1 mutation on chromosome 22 is the most well-known genetic abnormality in patients with schwannomatosis. LZTR1 is another major...
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