Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4‐related arteriopathy

A 57‐year‐old man with a family history of aortic aneurysm was found, during assessment of unexplained fever, to have an infrarenal aortic aneurysm requiring immediate repair. Dilatation of popliteal and iliac arteries was also present. Progressive aortic root dilatation with aortic regurgitation wa...

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Veröffentlicht in:American journal of medical genetics. Part A 2021-07, Vol.185 (7), p.2180-2189
Hauptverfasser: Haan, Eric A., Chamalaun, Francois H., Chamuleau, Steven A. J., Arnolda, Leonard F., Slavotinek, John P., Wise, Nadia C., Gunawardane, Dimuth N., Schwarze, Ulrike, Byers, Peter H., Gabb, Genevieve M.
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Sprache:eng
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