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Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome
Authors:Wendy Y Craig  James E Haddow  Glenn E Palomaki  Richard I Kelley  Lisa E Kratz  Cedric H L Shackleton  Josep Marcos  G Stephen Tint  Andrew R MacRae  Malgorzata J Nowaczyk  Edward M Kloza  Mira B Irons  Marie Roberson
Institution:1. From the Foundation for Blood Research, Scarborough, ME (J.E.H., W.Y.C., E.M.K.), USA;2. Women & Infants Hospital, Providence, RI (J.E.H., G.E.P.), USA;3. Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD (R.I.K., L.E.K.), USA;4. Children's Hospital Oakland Research Institute, Oakland, CA (C.H.L.S., J.M.), USA;5. Department of Veterans Affairs New Jersey Health Care System Medical Center, East Orange, NJ (G.S.T.), USA;6. The Research Institute at Lakeridge Health, Oshawa, Ontario (A.R.M.), Canada;7. McMaster University, Hamilton, Ontario (M.J.N.), Canada;8. Children's Hospital, Boston, MA (M.B.I.);9. USA;10. State of California, Department of Health Services, Genetics Disease Branch, Richmond, CA (M.R.), USA
Abstract:
Keywords:Smith–Lemli–Opitz syndrome  prenatal screening  diagnostic testing  prevalence
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