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Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive… Click to show full abstract
Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic variants in FBN1 have been described. The aim of this report was to underline the clinical variability that can be associated with the pathogenic variant c.1453C>T, p.(Arg485Cys) in FBN1.
Keywords:
syndrome caused;
dominant marfan;
marfan syndrome;
autosomal dominant;
marfan
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!