Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
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.
Bennett
C P
CP
Department of Human Genetics, University of Newcastle upon Tyne.
Burn
J
J
Moore
G E
GE
Chambers
J
J
Williamson
R
R
Wilkinson
J
J
D001024:Aortic Valve Stenosis / Q000235:genetics*; D002116:Calcitonin / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome
D005819:Genetic Markers; D002116:Calcitonin