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Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta.
Bascunana, C; El Helou, J; Rauch, F T; Bardai, G; Glorieux, F H; Riviere, J-B; Byers, P; Kaplan, P B; Rosenblatt, D S.
Afiliación
  • Bascunana C; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: claire.bacunana@gmail.com.
  • El Helou J; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: janine.elhelou.ccomtl@ssss.gouv.qc.ca.
  • Rauch FT; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Clinical Biomedical Laboratory, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: frank.rauch@mcgill.ca.
  • Bardai G; Clinical Biomedical Laboratory, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: GBardai@shriners.mcgill.ca.
  • Glorieux FH; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Clinical Biomedical Laboratory, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: glorieux@shriners.mcgill.ca.
  • Riviere JB; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: jean-baptiste.riviere@mcgill.ca.
  • Byers P; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA. Electronic address: pbyers@uw.edu.
  • Kaplan PB; Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: KAPLAN@email.chop.edu.
  • Rosenblatt DS; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada. Electronic address: david.rosenblatt@
Mol Genet Metab ; 131(1-2): 114-115, 2020.
Article en En | MEDLINE | ID: mdl-32690443
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I / Asesoramiento Genético Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I / Asesoramiento Genético Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article