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- Title
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
- Authors
Mautner, V-F; Kluwe, L; Friedrich, R E; Roehl, A C; Bammert, S; Högel, J; Spöri, H; Cooper, D N; Kehrer-Sawatzki, H
- Abstract
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).
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 9, p623
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2009.075937