Document Detail

Compound-heterozygous Marfan syndrome.
MedLine Citation:
PMID:  19059503     Owner:  NLM     Status:  MEDLINE    
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.
F S Van Dijk; B C Hamel; Y Hilhorst-Hofstee; B J M Mulder; J Timmermans; G Pals; J M Cobben
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-11-27
Journal Detail:
Title:  European journal of medical genetics     Volume:  52     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2009 Jan-Feb
Date Detail:
Created Date:  2009-01-12     Completed Date:  2009-04-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1-5     Citation Subset:  IM    
Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
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MeSH Terms
Family Health
Marfan Syndrome / genetics*
Microfilament Proteins / genetics*
Musculoskeletal Abnormalities / genetics
Mutation, Missense
Young Adult
Reg. No./Substance:
0/Microfilament Proteins; 0/fibrillin

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