Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

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Description scientific article published on 28 November 2018
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author: Eline Overwater  J Peter van Tintelen  Daniela Barge-Schaapveld  Phillis Lakeman  Marjan M Weiss  Alessandra Maugeri 

Publication date November 28, 2018
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