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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan, Joshua L; Gregg, Anthony R; Grody, Wayne W; Guo, Michael H; Kearney, Hutton; Monaghan, Kristin G; Raraigh, Karen S; Taylor, Jennifer; Zepeda-Mendoza, Cinthya J; Ziats, Catherine.
Afiliação
  • Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA.
  • Gregg AR; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC.
  • Grody WW; Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA.
  • Guo MH; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Kearney H; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.
  • Monaghan KG; GeneDx, LLC, Gaithersburg, MD.
  • Raraigh KS; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Taylor J; American College of Medical Genetics and Genomics, Bethesda, MD.
  • Zepeda-Mendoza CJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Ziats C; Division of Genetics, Department of Pediatrics, Dell Medical School, University of Texas, Austin, TX.
Genet Med ; 25(8): 100867, 2023 08.
Article em En | MEDLINE | ID: mdl-37310422

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Genética Médica Tipo de estudo: Diagnostic_studies / Guideline / Screening_studies Limite: Humans País/Região como assunto: America do norte Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Genética Médica Tipo de estudo: Diagnostic_studies / Guideline / Screening_studies Limite: Humans País/Região como assunto: America do norte Idioma: En Ano de publicação: 2023 Tipo de documento: Article