Spectrum of arterial obstructions caused by one elastin gene point mutation.
Koch
Andreas
A
Department of Paediatrics and Adolescent Medicine, Paediatric Cardiology, University of Erlangen-Nürnberg, Loschgestrasse 15, 91054 Erlangen, Germany. andreas.koch@kinder.imed.uni-erlangen.de
Buheitel
Gernot
G
Hofbeck
Michael
M
Rauch
Anita
A
Kraus
Cornelia
C
Tassabehji
Mayada
M
Singer
Helmut
H
D021921:Aortic Stenosis, Supravalvular / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004549:Elastin / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation
D004549:Elastin