학술논문
Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis
Document Type
Academic Journal
Author
Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Soglio, Dorothée Dal; 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
Obstetrical & Gynecological Survey. Dec 01, 2018 73(12):677-679
Subject
Language
English
ISSN
0029-7828
Abstract
(Abstracted from Genet Med 2018;20(7):745–753)Birth defects are a leading cause of mortality and mortality in infants and children. The etiology of birth defects is complex, and copy number variants (CNVs) detectable with chromosomal microarray currently represent the most commonly recognized cause of birth defects in fetuses and children.