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      Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

      1 , , ,
      Clinical genetics
      Wiley
      FBN1, Loeys-Dietz syndrome, Marfan syndrome, TGFBR, genotype, phenotype

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          Abstract

          We report about 52 pediatric patients of 40 different families with confirmed Marfan syndrome (MFS) in 49 patients and Loeys-Dietz syndrome (LDS) in 3 patients. We found 39 different mutations, 15 of them being novel. Phenotype-genotype correlation in the 49 MFS patients showed that the majority of patients carrying mutations in exons 1-21 had ectopic lens (80%). Patients having mutations in exons 23-32 had a higher probability of aortic root dilation, in 50% even above a z score of 3. We found three children with neonatal MFS form, two of them with novel mutations. Of the three LDS patients, only one presented with the typical phenotype of LDS type 1.

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          Author and article information

          Journal
          Clin Genet
          Clinical genetics
          Wiley
          1399-0004
          0009-9163
          Dec 2014
          : 86
          : 6
          Affiliations
          [1 ] Pediatric Marfan Syndrome Outpatient Clinic, Medical University Vienna, Vienna, Austria; Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Children's Hospital, Vienna, Austria.
          Article
          10.1111/cge.12314
          24199744
          017fe711-6005-46cc-868e-ff3942d9889a
          © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
          History

          FBN1,phenotype,genotype,TGFBR,Marfan syndrome,Loeys-Dietz syndrome

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