Etiology
Rodriguez-Martinez AC,
Higgins BE,
Tailor-Hamblin V,
Malka S,
Cheloni R,
Collins AM,
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Henderson R,
Moosajee M
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Michl P,
Broniš T,
Jurásková Sedlatá E,
Heinz P,
Pink R,
Šebek J,
Mottl R,
Dvořák Z,
Tvrdý P
Acta Chir Plast
2021 Winter;63(4):181-184.
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PMID: 35042361
Seifi M,
Walter MA
Clin Genet
2018 Jun;93(6):1123-1130.
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Chang TC,
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Br J Ophthalmol
2012 Mar;96(3):318-22.
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Semina EV
Curr Opin Ophthalmol
2011 Sep;22(5):314-24.
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Diagnosis
Reis LM,
Maheshwari M,
Capasso J,
Atilla H,
Dudakova L,
Thompson S,
Zitano L,
Lay-Son G,
Lowry RB,
Black J,
Lee J,
Shue A,
Kremlikova Pourova R,
Vaneckova M,
Skalicka P,
Jedlickova J,
Trkova M,
Williams B,
Richard G,
Bachman K,
Seeley AH,
Costakos D,
Glaser TM,
Levin AV,
Liskova P,
Murray JC,
Semina EV
J Med Genet
2023 Apr;60(4):368-379.
Epub 2022 Jul 26
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PMID: 35882526Free PMC Article
Kuht HJ,
Maconachie GDE,
Han J,
Kessel L,
van Genderen MM,
McLean RJ,
Hisaund M,
Tu Z,
Hertle RW,
Gronskov K,
Bai D,
Wei A,
Li W,
Jiao Y,
Smirnov V,
Choi JH,
Tobin MD,
Sheth V,
Purohit R,
Dawar B,
Girach A,
Strul S,
May L,
Chen FK,
Heath Jeffery RC,
Aamir A,
Sano R,
Jin J,
Brooks BP,
Kohl S,
Arveiler B,
Montoliu L,
Engle EC,
Proudlock FA,
Nishad G,
Pani P,
Varma G,
Gottlob I,
Thomas MG
Ophthalmology
2022 Jun;129(6):708-718.
Epub 2022 Feb 11
doi: 10.1016/j.ophtha.2022.02.010.
PMID: 35157951Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Seifi M,
Walter MA
Clin Genet
2018 Jun;93(6):1123-1130.
Epub 2018 Jan 25
doi: 10.1111/cge.13148.
PMID: 28972279
Turnpenny PD,
Ellard S
Eur J Hum Genet
2012 Mar;20(3):251-7.
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Therapy
Braun J
Adv Exp Med Biol
2009;649:133-47.
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PMID: 19731626
Ramos JL,
Li Y,
Huang D
Clin Exp Ophthalmol
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Young TL
Curr Opin Ophthalmol
2003 Oct;14(5):296-303.
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PMID: 14502058
Cameron JA
Cornea
1993 Mar;12(2):124-30.
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PMID: 8500319
Cook CS
Ophthalmic Paediatr Genet
1989 Mar;10(1):33-46.
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PMID: 2662095
Prognosis
Kuht HJ,
Maconachie GDE,
Han J,
Kessel L,
van Genderen MM,
McLean RJ,
Hisaund M,
Tu Z,
Hertle RW,
Gronskov K,
Bai D,
Wei A,
Li W,
Jiao Y,
Smirnov V,
Choi JH,
Tobin MD,
Sheth V,
Purohit R,
Dawar B,
Girach A,
Strul S,
May L,
Chen FK,
Heath Jeffery RC,
Aamir A,
Sano R,
Jin J,
Brooks BP,
Kohl S,
Arveiler B,
Montoliu L,
Engle EC,
Proudlock FA,
Nishad G,
Pani P,
Varma G,
Gottlob I,
Thomas MG
Ophthalmology
2022 Jun;129(6):708-718.
Epub 2022 Feb 11
doi: 10.1016/j.ophtha.2022.02.010.
PMID: 35157951Free PMC Article
Kylat RI
Acta Paediatr
2022 May;111(5):948-951.
Epub 2022 Jan 31
doi: 10.1111/apa.16260.
PMID: 35044009
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Michl P,
Broniš T,
Jurásková Sedlatá E,
Heinz P,
Pink R,
Šebek J,
Mottl R,
Dvořák Z,
Tvrdý P
Acta Chir Plast
2021 Winter;63(4):181-184.
doi: 10.48095/ccachp2021181.
PMID: 35042361
Wiggins GC,
Shaffrey CI,
Abel MF,
Menezes AH
Neurosurg Focus
2003 Jan 15;14(1):e3.
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PMID: 15766220
Clinical prediction guides
Rodriguez-Martinez AC,
Higgins BE,
Tailor-Hamblin V,
Malka S,
Cheloni R,
Collins AM,
Bladen J,
Henderson R,
Moosajee M
Int J Mol Sci
2023 Sep 11;24(18)
doi: 10.3390/ijms241813932.
PMID: 37762234Free PMC Article
Kuht HJ,
Maconachie GDE,
Han J,
Kessel L,
van Genderen MM,
McLean RJ,
Hisaund M,
Tu Z,
Hertle RW,
Gronskov K,
Bai D,
Wei A,
Li W,
Jiao Y,
Smirnov V,
Choi JH,
Tobin MD,
Sheth V,
Purohit R,
Dawar B,
Girach A,
Strul S,
May L,
Chen FK,
Heath Jeffery RC,
Aamir A,
Sano R,
Jin J,
Brooks BP,
Kohl S,
Arveiler B,
Montoliu L,
Engle EC,
Proudlock FA,
Nishad G,
Pani P,
Varma G,
Gottlob I,
Thomas MG
Ophthalmology
2022 Jun;129(6):708-718.
Epub 2022 Feb 11
doi: 10.1016/j.ophtha.2022.02.010.
PMID: 35157951Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Cilliers K,
Page BJ
Turk Neurosurg
2016;26(5):653-61.
doi: 10.5137/1019-5149.JTN.14294-15.1.
PMID: 27337235
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article