A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

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 o...

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Veröffentlicht in:	European journal of human genetics : EJHG 2016-02, Vol.24 (2), p.228-236
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiomyopathy Cardiovascular disease Congenital diseases Defects Etiology Female GATA4 Transcription Factor - genetics Genes Genetic counseling Genetic factors Genetic Testing Genetic Variation Genetics Heart Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology High-Throughput Nucleotide Sequencing Homeobox Protein Nkx-2.5 Homeodomain Proteins - genetics Human health and pathology Humans Life Sciences Male Multiplex Polymerase Chain Reaction Mutation Nkx2.5 protein Pedigree Stenosis Transcription Factors - genetics
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