Associated Papers
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
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