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Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.

Author information

Affiliations

  • 1. Center for Human Genetics, Leuven, Belgium.
      Authors
    • Legius E 1
    (1 author)

ORCIDs linked to this article

European Journal of Human Genetics : EJHG, 01 Jan 1998, 6(1):32-37
https://doi.org/10.1038/sj.ejhg.5200150 PMID: 9781012 

Abstract 

Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24. We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio-facio-cutaneous (CFC) syndrome in others. Clinical data and linkage data in this family indicate that NS and CFC syndrome result from a variable expression of the same genetic defect. We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24. A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 and D12S1341.

Full text links 

Read article at publisher's site: https://doi.org/10.1038/sj.ejhg.5200150

Read article for free, from open access legal sources, via Unpaywall: https://www.nature.com/articles/5200150.pdfUnpaywall

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