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Ophthalmic Genetics Volume 45, 2024 - Issue 1
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Case Report

Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene

Amit V. Mishraa Alberta Retina Consultants, Edmonton, Alberta, Canada;b Department of Ophthalmology, University of Alberta, Edmonton, CanadaCorrespondence[email protected]
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,
Rosanna Martensa Alberta Retina Consultants, Edmonton, Alberta, Canada;b Department of Ophthalmology, University of Alberta, Edmonton, CanadaView further author information
&
Ian M. MacDonaldc Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, CanadaORCID Iconhttps://orcid.org/0000-0001-7472-8385View further author information
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Pages 108-111 | Received 07 Mar 2023, Accepted 25 May 2023, Published online: 31 May 2023

References

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  • Schön S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Götting C. Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J Med Genet. 2006;43(9):745–9. doi:10.1136/jmg.2006.040972.

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