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Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome

✍ Scribed by Singh, Krishna Kumar; Shukla, Praphulla Chandra; Rommel, Kathrin; Schmidtke, Jörg; Arslan-Kirchner, Mine

Book ID: 110026622
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 81 KB
Volume: 14
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201620

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## Abstract We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe