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Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis

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.

Obstetrical & Gynecological Survey: December 2018 - Volume 73 - Issue 12 - p 677–679
doi: 10.1097/01.ogx.0000550387.91867.88
OBSTETRICS: GENETICS

(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.

CHU Sainte-Justine (S.B., C.F.-B., C.N., F.R., M.-A.D., D.D.S., L.L.O., N.P., P.C., A.K., S.N., F.A., E.L., F.F.H., Z.K., J.L.M.) and Department of Pathology, Université de Montréal (C.F.-B., D.D.S., L.L.O., N.P.), Montreal, Quebec; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario (D.C.), Canada; Department of Cytogenetics, Strasbourg University Hospital, Strasbourg, France (V.K., E.F.); Departments of Radiology, Radiooncology and Nuclear Medicine (F.R.) and Pediatrics (M.-A.D., P.C., A.K., S.N., E.L.), Université de Montréal, Montreal, Quebec; Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario (M.C., D.D.); Research Center, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke (W.D.F.); Department of Obstetrics and Gynecology, Université de Montréal (F.A.); Montreal Neurological Institute, McGill University (G.A.R.); and Department of Neurosciences, Université de Montréal (Z.K., J.L.M.), Montreal, Quebec, Canada

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