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Quoted phrase not found in phrase index: "Ciliary body coloboma"
Page 1
Congenital primary aphakia.
Ernst J, Medsinge A, Scanga HL, Hiasat J, Moore W, Ali A, Levin AV, Stahl ED, Nischal KK. Ernst J, et al. J AAPOS. 2022 Feb;26(1):4.e1-4.e5. doi: 10.1016/j.jaapos.2021.09.008. Epub 2022 Jan 17. J AAPOS. 2022. PMID: 35051625
Typical findings included silvery appearance of the cornea with vascularization (96%), glaucoma (81%), iridocorneal adhesions (74%), optic nerve coloboma (55%), abnormal vitreous (33%), retinal detachment (30%), and aniridia with hypoplasia of ciliary body (1 …
Typical findings included silvery appearance of the cornea with vascularization (96%), glaucoma (81%), iridocorneal adhesions (74%), optic n …
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Van De Weghe JC, et al. Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15. Am J Hum Genet. 2017. PMID: 28625504 Free PMC article.
Ciliopathies are unified by their overlapping clinical features and underlying mechanisms involving ciliary dysfunction. In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 …
Ciliopathies are unified by their overlapping clinical features and underlying mechanisms involving ciliary dysfunction. In this work …
Iris neovascularization in children as a manifestation of underlying medulloepithelioma.
Singh A, Singh AD, Shields CL, Shields JA. Singh A, et al. J Pediatr Ophthalmol Strabismus. 2001 Jul-Aug;38(4):224-8. doi: 10.3928/0191-3913-20010701-09. J Pediatr Ophthalmol Strabismus. 2001. PMID: 11495310
PURPOSE: To report the occurrence of unilateral iris neovascularization in children secondary to medulloepithelioma. METHODS: Presenting features and the clinical course of patients confirmed to have medulloepithelioma were reviewed. RESULTS: Seven patients with medulloepi …
PURPOSE: To report the occurrence of unilateral iris neovascularization in children secondary to medulloepithelioma. METHODS: Presenting fea …