Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
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Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.
Am J Med Genet A. 2015.
PMID: 25845371