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Global burden of genetic disease and the role of genetic screening
Affiliation:1. Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center fo Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, 14000 Caen, France;2. Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan;3. Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA;1. Adelaide Health Technology Assessment (AHTA), School of Public Health, The University of Adelaide, Adelaide, SA, Australia
Abstract:
Keywords:Chromosomal disorders  Metabolic disorders  Lysosomal storage disorders  Newborn screening  Non-invasive prenatal diagnosis  Preconception counseling
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