Article
Left-right patterning in congenital heart disease beyond heterotaxy.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2020
Gabriel George C, Lo Cecilia W
Abstract excerpt
Congenital heart defect is one of the most common structural birth defects in the human population. It is highly associated with heterotaxy, a birth defect involving randomized left-right patterning of visceral organ situs. Large scale mouse forward genetics have led to the finding of a central role for cilia in CHD pathogenesis, with some cilia and non-cilia mutations causing CHD with heterotaxy. Interestingly,...
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