Article

Epigenetic modulation in the pathogenesis and treatment of inherited aortic aneurysm conditions

2021-02-14

Abstract excerpt

Shprintzen-Goldberg syndrome (SGS) is a rare systemic connective tissue disorder characterized by craniofacial, skeletal, neurodevelopmental, cutaneous, and cardiovascular manifestations, including aortic root aneurysm. It has significant phenotypic overlap with both Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). We previously reported that SGS is caused by heterozygous mutations in the Sloan-Kettering Inst...

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Literature Corpus work: 82e95ead-ff8f-52dc-8e52-c98d19cd6d3b
DOI: 10.1101/2021.02.12.431010

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