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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene

✍ Scribed by Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert; Coremans, Christine; Coucke, Paul; de Paepe, Anne; Kornak, Uwe; Lebrun, Frederic; Lombet, Jacques; Piérard, Gérald E.; Robinson, Peter N.; Symoens, Sofie; Van Maldergem, Lionel; Debray, François-Guillaume

Book ID: 122107581
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 964 KB
Volume: 57
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2014.02.012

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Marfan syndrome with neonatal progeroid

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene

✍ Luitgard M. Graul-Neumann; Tina Kienitz; Peter N. Robinson; Sevjidmaa Baasanjav; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

## 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