Neurofibromatosis: from gene to phenotype.

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease which predominantly affects tissues derived from neural ectoderm. The gene has recently been cloned, and the biochemistry and cell biology of normal and mutant forms is gradually being elucidated. Despite the success of cloning the gene, there is a long way to go before the different features of the disease phenotype can be explained. Some of...

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