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Ophthalmic Genetics Volume 36, 2015 - Issue 3
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Mutation Report

C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain

Yelena BykhovskayaCornea Genetic Eye Institute, Beverly Hills, CA, USA, ;Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA, Correspondence[email protected]
,
Ana L. Caiado CanedoCornea Genetic Eye Institute, Beverly Hills, CA, USA,
,
Kenneth W. WrightWright Center for Pediatric Ophthalmology and Strabismus, Los Angeles, CA, USA, and
&
Yaron S. RabinowitzCornea Genetic Eye Institute, Beverly Hills, CA, USA, ;Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA, ;The Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, CA, USA
Pages 244-247 | Received 09 Jul 2013, Accepted 08 Sep 2013, Published online: 18 Oct 2013

REFERENCES

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  • Hughes AE, Bradley DT, Campbell M, et al. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet 2011;89:628–633
  • Iliff BW, Riazuddin SA, Gottsch JD. A single-base substitution in the seed region of miR-184 causes EDICT syndrome. Invest Ophthalmol Vis Sci 2012;53:348–353
  • Rabinowitz YS. Videokeratographic indices to aid in screening for keratoconus. J Refract Surg 1995;11:371–379
  • Hughes AE, Dash DP, Jackson AJ, et al. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci 2003;44:5063–5066
  • Akpek EK, Jun AS, Goodman DF, et al. Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis. Ophthalmology 2002;109:513–519
  • McClellan J, King MC. Genetic heterogeneity in human disease. Cell 2010;141:210–217
  • Iliff BW, Riazuddin SA, Gottsch JD. Documenting the corneal phenotype associated with the MIR184 c.57C>T mutation. Am J Hum Genet 2012;90: 934; author reply 934–935
  • Hughes AE, Bradley DT, Campbell M, et al. Response to Iliff et al. Am J Hum Genet 2012;90:934–935
  • Giasin O, Khan RS, Khan K. Corneal thinning phenotypes: an alternative perspective. Invest Ophthalmol Vis Sci 2012;53:1048 ; reply 1048
  • Iliff BW, Riazuddin SA, Gottsch JD: Author response: corneal thinning phenotypes – an alternative perspective. Invest Ophthal Vis Sci 2012;53:1048
  • McKernan KJ, Peckham HE, Costa GL, et al. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Research 2009;19:1527–1541

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