Article
[From gene to disease; neurofibromatosis type 1].
Nederlands tijdschrift voor geneeskunde - 8 Sept 2001
de Goede-Bolder A, Cnossen M H, Dooijes D, van den Ouweland A M, Niermeijer M F
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterised by café-au-lait spots, freckling in the axillary or inguinal region, dermal and plexiform neurofibromas and Lisch nodules. Complications are severe in one third of patients, and the clinical variability is pronounced, even within families. The NF1 gene has been localised to chromosome 17q11.2 and encodes the protein neurofibromin. The...
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