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Ophthalmic Genetics Volume 43, 2022 - Issue 5
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Case Report

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection

Cam Loveridge-Easthera Smith-Kettlewell Eye Research Institute, San Francisco, California, USAORCID Iconhttps://orcid.org/0000-0003-1684-4526View further author information
ORCID Icon,
Gulunay Kirayb Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand;c Department of Ophthalmology, New Zealand National Eye Centre Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New ZealandORCID Iconhttps://orcid.org/0000-0002-9618-9797View further author information
ORCID Icon,
Sarah Hullb Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand;c Department of Ophthalmology, New Zealand National Eye Centre Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New ZealandView further author information
&
Andrea L. Vincentb Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand;c Department of Ophthalmology, New Zealand National Eye Centre Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New ZealandCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-4185-3267View further author information
ORCID Icon
Pages 685-688 | Received 30 Mar 2022, Accepted 22 May 2022, Published online: 07 Jun 2022

References

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