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460 : Two Sisters with Congenital Blindness caused by OsteoporosispseudogliomaSyndrome due to new Mutations in the LPR5 Gene

Researchers

Presenter

  • Robitaille J M

Principal Investigators

  • Boerkoel C F

  • Rupps R

  • Lyons C

Medical Centers

  • Dalhousie University and IWK Health Centre, Department of Ophthalmology andVisual Sciences, Halifax, Canada

  • University of British Columbia- BC childrens Hospital, Genetics, Vancouver, Canada

  • University of British Columbia- BC childrens Hospital, Genetics, Vancouver, Canada

  • Aalborg University Hospital, Ophthalmology, Aalborg, Denmark

Locations

  • Canada

  • Denmark

Companies

  • N/A

Study Components

Therapeutic Area

  • Musculoskeletal

Disease

  • Osteoporosis pseudoglioma syndrome

Biomarkers

  • LDL Receptor Related Protein 5

Drug/Treatment

  • N/A

Outcome

  • Unknown

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Final

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