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KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-06-30 , DOI: 10.1111/cge.14018
Clara Lacasta-Plasin 1 , Victor Martinez-Glez 2, 3 , Lara Rodriguez-Laguna 2, 3 , Antonio Cervantes-Pardo 4 , Teresa Martinez-Menchon 5 , Regina Sanchez-Jimenez 4 , Minia Campos-Dominguez 1, 5, 6
Affiliation  

Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.
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中文翻译:

在用西罗莫司和曲美替尼治疗的 melorheostosis 和扩大的淋巴管瘤病患者中发现 KRAS 突变

在患有 melorheostosis、淋巴瘤病和血管狭窄的患者的皮肤活检中检测 KRAS 突变。她用曲美替尼成功治疗。
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更新日期:2021-09-03
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