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| Identification of a Fibrillin-1 Gene Mutation in a Monozygotic Twin Presenting with Bilateral Juvenile-onset Ectopia Lentis |
| Hae Ri Yum, Sung Eun Kim, Sun Young Shin, Shin Hae Park |
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Korean J Ophthalmol. 2015;29(1):77-78. Published online January 22, 2015 DOI: https://doi.org/10.3341/kjo.2015.29.1.77 |
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Identification of a Fibrillin-1 Gene Mutation in a Monozygotic Twin Presenting with Bilateral Juvenile-onset Ectopia Lentis Korean Journal of Ophthalmology. 2015;29(1):77  A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis Genomics. 1994;19(3):573-576 A novel mutation of the fibrillin gene causing familial ectopia lentis with no cardiovascular manifestations Matrix Biology. 1994;14(5):384-385 Bilateral Simple Ectopia Lentis Associated with FBN1 Gene Mutation Journal of the Korean Ophthalmological Society. 2017;58(10):1199 Craniosynostosis associated with ectopia lentis in monozygotic twin sisters American Journal of Medical Genetics. 1999;82(3):201-205 Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome Nature Genetics. 1994;6(1):64-69 A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin Molecular Genetics and Metabolism. 2016;117(1):38-41 Congenital ectopia lentis, A Danish national survey Acta Ophthalmologica Scandinavica. 1998;76(1):20-26 Bilateral ectopia lentis as a presenting feature of medulloepithelioma Journal of American Association for Pediatric Ophthalmology and Strabismus. 2001;5(4):255-257 Novel FBN1 Mutation Causes Marfan Syndrome with Bilateral Ectopia Lentis and Refractory Glaucoma European Journal of Ophthalmology. 2011;22(4):667-669 |
