Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

We describe a large family with a connective-tissue disorder that exhibits some of the skeletal and cardiovascular features seen in Marfan syndrome. However, none of the 19 affected individuals displayed ocular abnormalities and therefore did not comply with recognized criteria for this disease. The...

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Bibliographic Details
Main Authors: Boileau, Catherine, Jondeau, Guillaume, Babron, Marie-Claude, Coulon, Monique, Alexandre, Jeanne-Armelle, Sakai, Lynn, Melki, Judith, Delorme, Gabriel, Dubourg, Olivier, Bonaïti-Pellié, Catherine, Bourdarias, Jean-Pierre, Junien, Claudine
Format: Artigo
Language:Inglês
Published: 1993
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682251/
https://ncbi.nlm.nih.gov/pubmed/8317497
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