Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy

• Published in: The Journal of pediatrics Vol. 204; pp. 31 - 37
• Main Authors: Olson, Andrew J., Krentz, Anthony D., Finta, Kathleen M., Okorie, Uzoma C., Haws, Robert M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2019
• Subjects: cilia; ciliopathy; laterality defects; primary ciliary dyskinesia; rare disease registry; PCD; CT; BBS; CRIBBS; cilia; rare disease registry; laterality defects; primary ciliary dyskinesia; ciliopathy

To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (BBS), a model ciliopathy for understanding the role of cilia in human health. The Clinical Registry Investigating BBS, a worldwide registry exploring the phenotype and natural history of BBS, wa...