Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aorti...
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical courses and disease progression. Herein, we report three siblings with BAV and clinical differences. Their clinical presentations include moderate to severe aortic regurgitation, aortic stenosis, and as...
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Full title
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease
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TN_cdi_hal_primary_oai_HAL_hal_03780217v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03780217v1
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-022-01036-x
