Article
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
Journal of medical genetics - 1 Sept 2010
Mautner V-F, Kluwe L, Friedrich R E, Roehl A C, Bammert S, Högel J, Spöri H, Cooper D N, Kehrer-Sawatzki H
Abstract excerpt
BACKGROUND: Large deletions of the NF1 gene region occur in approximately 5% of patients with neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of the disease. However, until now, the genotype-phenotype relationship has not been comprehensively studied in patients harbouring large NF1 gene deletions of comparable extent (giving rise to haploinsufficiency of the same genes)....
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