Article
[Developmental manifestation in children with neurofibromatosis type 1].
Harefuah - 1 Jan 2010
Cohen Rony, Shuper Avinoam
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that primarily involves the skin and the nervous system. It affects about 1 in 4000 individuals. NF1 is caused by a mutation in the nfl gene located on chromosome 17q11.2. Neurofibromin, the protein products of the normal nf1 gene, acts as a tumor suppressor and limits cell growth. Mutation in this gene leads to cell overgrowth and an increased...
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