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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.

We have performed linkage analysis in a small family with autosomal dominant inheritance of multiple café-au-lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited café-au-lait spots in this family.[1]

References

  1. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. Brunner, H.G., Hulsebos, T., Steijlen, P.M., der Kinderen, D.J., vd Steen, A., Hamel, B.C. Am. J. Med. Genet. (1993) [Pubmed]
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