Article
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
European journal of human genetics : EJHG - 1 Feb 2016
El Malti Rajae, Liu Hui, Doray Bérénice, Thauvin Christel, Maltret Alice, Dauphin Claire, Gonçalves-Rocha Miguel, Teboul Michel, Blanchet Patricia, Roume Joëlle, Gronier Céline, Ducreux Corinne, Veyrier Magali, Marçon François, Acar Philippe, Lusson Jean-René, Levy Marilyne, Beyler Constance, Vigneron Jacqueline, Cordier-Alex Marie-Pierre, Heitz François, Sanlaville Damien, Bonnet Damien, Bouvagnet Patrice
Abstract excerpt
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic...
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