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Research Report

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8)

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Pages 145-148 | Received 09 Jun 2013, Accepted 18 Aug 2013, Published online: 27 Sep 2013

References

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  • Meire FM, Bleeker-Wagemakers EM, Oehler M, et al. X-linked megalocornea. Ocular findings and linkage analysis. Ophthalmic Paediatr Genet 1991;12:153–157
  • Webb TR, Matarin M, Gardner JC, et al. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Am J Hum Genet 2012;90:247–259
  • Aldave AJ, Yellore VS, Yu F, et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A 2007;143A:2549–2556
  • Heon E, Mathers WD, Alward WL, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995;4:485–488
  • Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet 2005;77:694–708
  • Yellore VS, Papp JC, Sobel E, et al. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med 2007;9:228–234
  • Bakhtiari P, Frausto RF, Roldan AN, et al. Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. Mol Vis 2013;19:575–580

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