2011
DOI: 10.1590/s0100-879x2011007500095
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Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

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Cited by 3 publications
(2 citation statements)
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“…According to estimations, up to 5% of MFS patients are carriers of the mutation in the TGF-βR2 gene [ 28 ]. These alterations were found to be associated with aortic dilation [ 29 ]. In 25% of cases, Marfan’s syndrome is caused by de-novo mutations.…”
Section: Marfan’s Syndrome (Mfs)mentioning
confidence: 99%
“…According to estimations, up to 5% of MFS patients are carriers of the mutation in the TGF-βR2 gene [ 28 ]. These alterations were found to be associated with aortic dilation [ 29 ]. In 25% of cases, Marfan’s syndrome is caused by de-novo mutations.…”
Section: Marfan’s Syndrome (Mfs)mentioning
confidence: 99%
“…The first mutation in FBN1 found in Marfan syndrome was published in 1991 13 . There is still discussion on the subject of locus heterogeneity, but it is clear that the majority of Marfan syndrome patients have a pathogenic variant in the FBN1 gene 14,15 . In many countries, however, genetic testing is not readily available, so the use of the clinical criteria remains important in assessing Marfan syndrome and related phenotypes 16,17 .…”
Section: Introductionmentioning
confidence: 99%