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Results 1 - 6 of 6 for supravalvular aortic stenosis
  1. Supravalvular aortic stenosis 
    Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of ... aortic SVAS Genetic Testing Registry: Supravalvar aortic stenosis Supravalvular aortic stenosis National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  2. ELN gene 
    ... the ELN gene have been found to cause supravalvular aortic stenosis (SVAS), a blood vessel defect most commonly identified ... gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 1993 Apr 9;73(1):159-68. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  3. Williams syndrome 
    ... full lips. A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  4. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic Disorders/Specifics ... Genetic Disorders ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  5. Congenital Heart Defects (National Library of Medicine)  
    What are congenital heart defects? Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems ...
    https://medlineplus.gov/congenitalheartdefects.html - Health Topics
  6. Williams Syndrome (For Parents) (Nemours Foundation)  
    Birth Defects/Specifics ... Birth Defects ... Congenital Heart Defects/Children ... Congenital Heart Defects ... Nemours Foundation ... Williams Syndrome, elastin arteriopathy, ...
    https://kidshealth.org/en/parents/williams-syndrome.html - External Health Links