脑颅皮肤脂肪瘤病、变形综合征和体细胞镶嵌现象。
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism.
作者信息
Rizzo R, Pavone L, Micali G, Nigro F, Cohen M M
机构信息
Pediatric Clinic, Catania University, Italy.
出版信息
Am J Med Genet. 1993 Oct 1;47(5):653-5. doi: 10.1002/ajmg.1320470515.
PMID:8266992
Abstract
We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism.
摘要
我们报告了一例患有脑颅皮肤脂肪瘤病和变形综合征表现的患者。与其他已报道患者的进一步比较表明，这是一个连续体，而非具有共同表现的两种不同实体。这种连续体支持体细胞镶嵌现象的概念。
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