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2011 1
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2014 1
2015 1
2018 1
2024 0

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The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
Khan AO, Ghazi NG. Khan AO, et al. Ophthalmic Genet. 2018 Jun;39(3):321-324. doi: 10.1080/13816810.2018.1430245. Epub 2018 Feb 1. Ophthalmic Genet. 2018. PMID: 29388841
Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal detachment repair. The three eyes (two children) without retinal detachment had a consistent unique optic nerve head appearance, with thin e …
Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal …
Cochlear implantation in Donnai-Barrow syndrome.
Bruce IA, Broomfield SJ, Henderson L, Green KM, Ramsden RT. Bruce IA, et al. Cochlear Implants Int. 2011 Feb;12(1):60-3. doi: 10.1179/146701010X486534. Cochlear Implants Int. 2011. PMID: 21756462
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.
Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G. Schrauwen I, et al. Clin Genet. 2014 Sep;86(3):282-6. doi: 10.1111/cge.12265. Epub 2013 Sep 23. Clin Genet. 2014. PMID: 23992033
No mutation was identified in COL9A1/2, COL11A1/2, or COL2A1 genes. The variant (c.11483A>G; p.Asp3828Gly) is predicted to be damaging and is conserved among vertebrate species. ...
No mutation was identified in COL9A1/2, COL11A1/2, or COL2A1 genes. The variant (c.11483A>G; p.Asp3828Gly) is predicted to be dama …