Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.

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.

• Authors: C P Bennett, J Burn, G E Moore, J Chambers, R Williamson, J Wilkinson
• Journal: Journal of medical genetics (J Med Genet) Vol. 25 Issue 5 Pg. 311-2 (May 1988) ISSN: 0022-2593 [Print] England
• PMID: 3164411 (Publication Type: Case Reports, Journal Article)

Chemical References

• Genetic Markers
• Calcitonin

Topics

• Aortic Valve Stenosis (genetics)
• Calcitonin (genetics)
• Female
• Genes, Dominant
• Genetic Markers
• Humans
• Hypercalcemia (genetics)
• Male
• Pedigree
• Syndrome