Article
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
Human mutation - 1 Jan 1997
Cnossen M H, van der Est M N, Breuning M H, van Asperen C J, Breslau-Siderius E J, van der Ploeg A T, de Goede-Bolder A, van den Ouweland A M, Halley D J, Niermeijer M F
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinical features or severity, were screened with intragenic polymorphic repeat markers and by Southern analysis with cDNA...
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