Abstract:Several reports since the mid 1990s have demonstrated causal mutations in COL5A1 and COL5A2 in Ehlers-Danlos syndrome (EDS) Classic Type. However, the presence of rare type I collagen variants, and the absence of a large consecutive series with fully annotated clinical findings and mutation analysis, has not permitted the same definitive molecular causation for classic EDS as for the Marfan syndrome. Symoens et al. (Hum Mutat 33: 1485-1493, 2012 have now reported what is likely to be a benchmark clinical/molec… Show more
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