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Publication year
2009Source
European Journal of Medical Genetics, 52, 1, (2009), pp. 1-5ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Cardiology
Former Organization
Radboud University Nijmegen Medical Centre
Journal title
European Journal of Medical Genetics
Volume
vol. 52
Issue
iss. 1
Page start
p. 1
Page end
p. 5
Subject
NCEBP 14: Cardiovascular diseasesAbstract
We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one allele and a pathogenic FBN1 mutation on the other allele. The phenotype of the compound-heterozygous probands appears to be more severe than that of their heterozygous family members which underlines the possibility that certain trans-located FBN1 mutations might act as modifiers of phenotype explaining some of the intrafamilial variability in Marfan syndrome.
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- Academic publications [205105]
- Electronic publications [103310]
- Faculty of Medical Sciences [81055]
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