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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

✍ Scribed by Hogue, J; Lee, C; Jelin, A; Strecker, MN; Cox, VA; Slavotinek, AM


Book ID
118272701
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
615 KB
Volume
84
Category
Article
ISSN
0009-9163

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## Abstract We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficien