학술논문
Genomic study of severe fetal anomalies and discovery of GREB1Lmutations in renal agenesis
Document Type
Article
Author
Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Dal Soglio, Dorothée; Oligny, Luc L.; Patey, Natalie; Flori, Elisabeth; Cloutier, Mireille; Dyment, David; Campeau, Philippe; Karalis, Aspasia; Nizard, Sonia; Fraser, William D.; Audibert, François; Lemyre, Emmanuelle; Rouleau, Guy A.; Hamdan, Fadi F.; Kibar, Zoha; Michaud, Jacques L.
Source
Genetics in Medicine; July 2018, Vol. 20 Issue: 7 p745-753, 9p
Subject
Language
ISSN
10983600; 15300366
Abstract
Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.