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168 results
  • A sclerocornea-associated RAD21 variant induces corneal stroma disorganization. [Journal Article]
    Exp Eye Res 2019; 185:107687Zhang BN, Wong TCB, … Chu WK
  • Sclerocornea is a cornea opacification disorder. Disorganized corneal stroma fibrils are observed in patients' cornea. Previously we identified a RAD21C1348T variant that is associated with a peripheral sclerocornea pedigree. To explore whether this RAD21 variant can induce sclerocornea-related phenotype, and to investigate the possible mechanisms of such phenotype, the orthologous rad21 wild-typ…
  • Bespoke ocular prostheses. [Journal Article]
    Eye (Lond) 2019; 33(7):1158-1160Ruiters S, de Jong S, Mombaerts I
  • CONCLUSIONS: Tailoring the ocular prosthesis to the distinct condition of the anophthalmic socket and contralateral eye adds to the success of rehabilitative prosthetic treatment of the patient.
  • FOXE3 mutations: genotype-phenotype correlations. [Journal Article]
    Clin Genet 2018; 93(4):837-845Plaisancié J, Ragge NK, … Chassaing N
  • Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently…
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