Etiology
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
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Abeshi A,
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Invest Ophthalmol Vis Sci
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Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
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Gao FJ,
Li JK,
Chen H,
Hu FY,
Zhang SH,
Qi YH,
Xu P,
Wang DD,
Wang LS,
Chang Q,
Zhang YJ,
Liu W,
Li W,
Wang M,
Chen F,
Xu GZ,
Wu JH
Ophthalmology
2019 Nov;126(11):1549-1556.
Epub 2019 May 1
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Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
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Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
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Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
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Diagnosis
Gao FJ,
Li JK,
Chen H,
Hu FY,
Zhang SH,
Qi YH,
Xu P,
Wang DD,
Wang LS,
Chang Q,
Zhang YJ,
Liu W,
Li W,
Wang M,
Chen F,
Xu GZ,
Wu JH
Ophthalmology
2019 Nov;126(11):1549-1556.
Epub 2019 May 1
doi: 10.1016/j.ophtha.2019.04.038.
PMID: 31054281
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
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PMID: 29597005
Daiger SP,
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Bowne SJ
Clin Genet
2013 Aug;84(2):132-41.
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Forsythe E,
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2013 Jan;21(1):8-13.
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Hamel C
Orphanet J Rare Dis
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Therapy
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Lagali PS,
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Hurley B,
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Dimopoulos I,
Lafreniere M,
Fergusson DA,
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2023 Nov 1;12(11):24.
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Hufnagel RB,
Liang W,
Duncan JL,
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Audo I,
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Branham K,
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Daiger SP,
Durham TA,
Guan B,
Heon E,
Hoyng CB,
Iannaccone A,
Kay CN,
Michaelides M,
Pennesi ME,
Singh MS,
Ullah E;
Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat
2022 May;43(5):613-624.
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Doc Ophthalmol
2017 Jun;134(3):175-183.
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Shintani K,
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Optometry
2009 Jul;80(7):384-401.
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Rahbeeni Z,
Ozand PT,
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al Odaib A,
Amoudi M,
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Prognosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:131-137.
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PMID: 30578499
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
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Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
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PMID: 17032466Free PMC Article
Clinical prediction guides
Sanjurjo-Soriano C,
Jimenez-Medina C,
Erkilic N,
Cappellino L,
Lefevre A,
Nagel-Wolfrum K,
Wolfrum U,
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Ophthalmology
2023 Apr;130(4):413-422.
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Yang XR,
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Am J Med Genet C Semin Med Genet
2020 Sep;184(3):538-570.
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Karali M,
Testa F,
Brunetti-Pierri R,
Di Iorio V,
Pizzo M,
Melillo P,
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2019 Dec 20;21(1)
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Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
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doi: 10.1038/ejhg.2012.115.
PMID: 22713813Free PMC Article