| Literature DB >> 8357027 |
H G Brunner1, T Hulsebos, P M Steijlen, D J der Kinderen, A vd Steen, B C Hamel.
Abstract
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.Entities:
Mesh:
Year: 1993 PMID: 8357027 DOI: 10.1002/ajmg.1320460428
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299