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Article

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the <i>FBN1</i> gene

15 Mar 2007

Abstract excerpt

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 insufficiency, and pulmonary emphysema. All three siblings died due to cardiorespiratory insufficiency by 2-4 months of age. Screening of...

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PMID: 17366579
DOI: 10.1002/ajmg.a.31660

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Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the <i>FBN1</i> genePMID 17366579Read ↗

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