Overwater, Eline <br/><br/>
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.  [electronic resource] 

 -  Molecular genetics & genomic medicine  02 2019 
 - e00518 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.518  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Female<br/>Fibrillin-1--genetics<br/>Genes, Dominant<br/>Humans<br/>Male<br/>Marfan Syndrome--genetics<br/>Middle Aged<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype