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Maffucci's综合征1例 被引量:5

Maffucci's syndrome: a case report
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摘要 Maffucci''s综合征是先天性中胚层发育不良伴内生性软骨瘤合并血管瘤的罕见疾病,迄今约有200例报道,本文对1例患者进行报道。 Maffucci's syndrome is a rare, congenital mesodermal dysplasia combined with dyschondroplasia and haemangiomatosis, and there are only about 200 reported cases. We reported a case with Maffueei syndrome.
作者 金军 章振林
出处 《中华骨质疏松和骨矿盐疾病杂志》 2013年第3期257-259,共3页 Chinese Journal Of Osteoporosis And Bone Mineral Research
基金 国家自然科学基金(81070692和81170803) 上海市科委重大科技专题攻关专项(10D1950100) 上海市卫生局新百人优秀学科带头人培养计划(XBR2011014)
关键词 Maffucci's综合征 临床表现 Maffucci's syndrome clinical features
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参考文献8

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  • 3Amezyane T, Bassou D, Abouzahir Aiet al. A young women with Maffucci syndrome [ J ]. Intem Med, 2010, 49 : 85 - 86.
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  • 8Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDI-I2 [J]. Nat Genet, 2011, 43:1262-1265.

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