Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis.
St Heaps
L
L
Robson
L
L
Smith
A
A
D000293:Adolescent; D000328:Adult; D021921:Aortic Stenosis, Supravalvular / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000191:economics / Q000706:statistics & numerical data; D007223:Infant; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D018980:Williams Syndrome / Q000175:diagnosis* / Q000235:genetics