Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
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DOI: 10.1002/mgg3.518
Abstract: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic… read more here.
Keywords: syndrome caused; dominant marfan; marfan syndrome; autosomal dominant ... See more keywords