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Results 1 - 5 of 5 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)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  5. 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