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Clinical and Experimental Nephrology
Literature
1.
Nussbaum RL, Suchy SF. The oculocerebrorenal syndrome of Lowe. In: Scriver CR, Beadet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill; 2001. p. 6257–66.
2.
Nussbaum RL, Orrison M, Jänne P, Charnas L, Chinault A. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997;99:145–50.CrossRefPubMed
3.
Sethi SK, Bagga A, Gulati A, Hari P, Gupta N, Lunardi J. Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clin Exp Nephrol. 2008;12:358–62.CrossRefPubMed
4.
Tsuru T, Yamagata T, Momoi MY, Okabe I. Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis. Prenat Diagn. 1999;19:269–70.CrossRefPubMed
5.
Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, et al. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am J Hum Genet. 1999;65:68–76.CrossRefPubMed
6.
Suchy SF, Lin T, Horwitz JA, O’Brien WE, Nussbaum RL. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. 1998;18:1117–21.CrossRefPubMed
Metadata
Title
Antenatal diagnosis of Lowe syndrome
Authors
Sidharth Kumar Sethi
Joel Lunardi
Madhulika Kabra
Deepika Deka
Arvind Bagga
Publication date
01-06-2010
Publisher
Springer Japan
Published in
Clinical and Experimental Nephrology / Issue 3/2010
Print ISSN: 1342-1751
Electronic ISSN: 1437-7799
DOI
https://doi.org/10.1007/s10157-010-0267-2

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