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出典:Wiktionary
出典:『Wiktionary』 (2025/03/24 20:16 UTC 版)
Named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni Jr., who first recognized the syndrome.
Li-Fraumeni syndrome (uncountable)
出典:Wikipedia
出典:『Wikipedia』 (2011/04/18 22:29 UTC 版)
Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer. The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which normally helps control cell growth. Mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells.