| 单词 |
klippel-trenaunay syndrome |
| 释义 |
Klippel-Trenaunay syndrome
Klippel-Trenaunay-Weber syndrome A congenital disease (OMIM:149000) characterised by malformations of capillary (98% of patients), venous (72%) and lymphatic (11%) vessels, as well as bony and soft tissue hypertrophy, leading to large cutaneous haemangiomas with hypertrophy of the related bones and soft tissues.
Molecular pathology
Defects in AGGF1 on 5q13.3, which encodes a protein that promotes angiogenesis and endothelial cell proliferation, are a cause Klippel-Trenaunay syndrome. Other potential Klippel-Trenaunay-Weber syndrome gene loci have been identified at 8q22.3 and 14q13.AcronymsSeeKTS |
| 随便看 |
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