Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. Issue 5 (May 1988)

• Record Type: Journal Article
• Authors: Bennett, C P; Burn, J; Moore, G E; Chambers, J; Williamson, R; Wilkinson, J
• Is Part Of: Journal of medical genetics. Volume 25:Issue 5(1988)
• Page Start: 311
• Page End: 312
• Publication Date: 1988-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.25.5.311
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Supravalvular aortic stenosis (SVAS) may occur as an isolated autosomal dominant trait or as a feature of Williams syndrome. It has been suggested that a defect in calcitonin function may play a role in Williams syndrome. We have excluded calcitonin as a candidate gene for SVAS using a gene specific probe.