Article
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
Journal of medical genetics - 1 Feb 2007
Ferner Rosalie E, Huson Susan M, Thomas Nick, Moss Celia, Willshaw Harry, Evans D Gareth, Upadhyaya Meena, Towers Richard, Gleeson Michael, Steiger Christine, Kirby Amanda
Abstract excerpt
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raised the prospect of...
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