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neurofibromatosis

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neurofibromatosis

Rare genetic disorder characterized by coffee-coloured spots or multiple soft skin swellings all over the body and by benign tumours of nerve sheaths (neurofibromas). It sometimes causes skeletal deformities. The gene responsible for the condition was discovered 1990 but there is still no cure (as of 2007).



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Neurofibromatosis type 1, which occurs in 1 of 3,000 individuals, is the result of a genetic defect in chromosome 17.
The Co-op Travel office in Marsh raised pounds 1,339 for the Neurofibromatosis Association, which helps research into a disease similar to cystic fibrosis.
The boy, who had neurofibromatosis 2, took in sights including Sydney, Paris, a gondola ride in Venice and whale-watching in Hawaii.
 
 
 
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