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Case Reports

Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma

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Pages 98-101 | Received 24 Apr 2014, Accepted 05 May 2014, Published online: 09 Jun 2014

REFERENCES

  • Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol 2011;22:347–355
  • Khan AO, Aldahmesh MA, Al-Abdi L, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet 2011;32:138–142
  • Abu-Amero KK, Kondkar AA, Salih MA, et al. Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder. Ophthalmic Genet 2013;34:90–96
  • Zackai EH, Stolle CA. A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. Am J Hum Genet 1998;63:1277–1281
  • Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010;154C:355–364
  • Jamsheer A, Sowinska A, Trzeciak T, et al. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet 2012;53:415–422
  • Lowry RB, MacLean JR. Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis. Birth Defects Orig Artic Ser 1977;13:203–228
  • Saraiva JM, Gama E, Pires MM, Sequeira JF. First report of glaucoma as a feature of the 3C syndrome. Clin Dysmorphol 1995;4:156–160
  • Kousseff BG, Ranells JD. Lowry-Maclean syndrome does exist. Am J Med Genet 1994;53:300–301
  • Leonardi ML, Pai GS, Wilkes B, Lebel RR. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet 2001;102:237–242

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