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[Genetics of type 1 neurofibromatosis].

Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma - 1 Jan 2000

Garavelli L, Donadio A, Sigorini M, Grassi L, Banchini G

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by cafè au lait spots, multiple neurofibromas and Lisch nodules of the iris, with marked variability of expression. The NF1 gene is located at 17q11.2, spans 350 kb genomic DNA and comprises 60 exons encoding a 11-13 kb transcript (Viskochil et al.). Four alternatively spliced NF1 transcripts have been identified and they show...

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PMID: 11424621

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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