Article
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Molecular genetics & genomic medicine - 1 Jul 2023
Buki Gergely, Szalai Renata, Pinter Adrienn, Hadzsiev Kinga, Melegh Bela, Rauch Tibor, Bene Judit
Abstract excerpt
BACKGROUND: Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life-threatening complications. Most of the cases are caused by mutations, a minor group of which are copy number variations (CNV), in the FBN1 gene. METHODS: Multiplex ligation-dependent probe amplification test was...
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