Article
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Connective tissue research - 1 Mar 2019
Ergoren Mahmut Cerkez, Turkgenc Burcu, Teralı Kerem, Rodoplu Orhan, Verstraeten Aline, Van Laer Lut, Mocan Gamze, Loeys Bart, Tetik Omer, Temel Sehime G
Abstract excerpt
Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first...
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