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Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

✍ Scribed by Šípek, Antonín; Grodecká, Lucie; Baxová, Alice; Cibulková, Petra; Dvořáková, Magdaléna; Mazurová, Stella; Magner, Martin; Zeman, Jiří; Honzík, Tomáš; Freiberger, Tomáš


Book ID
121648115
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
123 KB
Volume
164
Category
Article
ISSN
1552-4825

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Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M