Publications

Van Gucht et al. A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. PMID: 34010605.

Ziegler et al. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. PMID: 34010604.