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- W2801773514 abstract "Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype." @default.
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- W2801773514 date "2018-07-01" @default.
- W2801773514 modified "2023-09-23" @default.
- W2801773514 title "A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement" @default.
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- W2801773514 doi "https://doi.org/10.1016/j.carpath.2018.04.006" @default.
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