Neurofibromatosis type 1: natural history and impact on quality of life
Neurofibromatosis Type 1 (NF1, von Recklinghausen’s disease) is among the more common autosomal dominant genetic disorders, with a worldwide incidence of approximately 1 in 3000 live births. NF1 can occur as either an inherited defect or as a spontaneous “de novo” mutation. NFI is caused by mutation...
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| Language: | en_US |
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2016
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| Online Access: | https://hdl.handle.net/2144/19425 |