Article
Familial stenosis of the pulmonary artery branches with a JAG1 mutation.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology - 1 Apr 2006
Sousa Ana Berta, Medeira Ana, Kamath Binita M, Spinner Nancy B, Cordeiro Isabel
Abstract excerpt
Although most congenital heart defects are isolated abnormalities of embryonic development, with little genetic contribution, a small number are components of syndromes. In such cases, an accurate diagnosis has important implications for individual prognosis and familial genetic counseling. Alagille syndrome (AGS) is a dominantly inherited multisystem developmental disorder, which primarily affects the liver,...
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