Article
Fibronectin: characterization of a somatic mutation in Sturge-Weber syndrome (SWS).
Medical hypotheses - 1 Aug 2009
Zhou Qin, Zheng Jia Wei, Yang Xiu Juan, Wang Yan An, Ye Wei Min, Zhu Han Guang, Zhang Zhi Yuan
Abstract excerpt
Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma. The cause of this disease remains unclear. Due to the occurrence of localized abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin gene expressions in the SWS port-wine-derived fibroblasts...
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