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Obstetric Case Reports

Prenatal detection of congenital cataract in a fetus with Lowe syndrome

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Pages 409-410 | Published online: 12 May 2010

References

  • Gardner RJ, Brown N. 1976. Lowe's syndrome: identification of carriers by lens examination. Journal of Medical Genetics 13:449–454.
  • Lin T, Orison BM, Leahey AM, et al 1997. Spectrum of mutations inthe OCRL1 gene in the Lowe oculocerebrorenal syndrome. American Journal of Human Genetics 60:1384–1388.
  • Lowe CU, Terrey M, Mac Lachlan EA. 1952. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity. American Journal of Diseases of Children 83:164–184.
  • Norden AG, Lapsley M, Lee PJ, et al 2001. Glomerular protein sieving and implications for renal failure in Fanconi syndrome. Kidney International 60:1885–1892.
  • Roschinger W, Muntau AC, Rudolph G, et al 2000. Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Molecular Genetics and Metabolism 69:213–222.
  • Suchy S, Lin T, Horwitz J, et al 1998. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenatal Diagnosis 18:1117–1121.
  • Tsuru T, Yamagata T, Momoi Y, et al 1999. Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis. Prenatal Diagnosis 19:269–270.

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