Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

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Published in Am J Hum Genet on September 27, 2001

Authors

U Schwarze1, W I Schievink, E Petty, M R Jaff, D Babovic-Vuksanovic, K J Cherry, M Pepin, P H Byers

Author Affiliations

1: Department of Pathology, University of Washington, Seattle, WA 98195, USA.

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