Novel OCRL mutations in Chinese children with Lowe syndrome

Author:

Zhang Yan-Qin,Wang Fang,Ding Jie,Yan Hui,Yang Yan-Ling

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference19 articles.

1. Loi M. Lowe syndrome. Orphanet J Rare Dis 2006;1:16.

2. Lowe CU, Terrey M, Maclachlan EA. Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity. AMA Am J Dis Child 1952;83:164–184.

3. Tasic V, Lozanovski VJ, Korneti P, Ristoska-Bojkovska N, Sabolic-Avramovska V, Gucev Z, et al. Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol 2011;26:557–562.

4. Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. SourceGene Reviews. Seattle: University of Washington, 2001. www.ncbi.nlm.nih.gov/books/NBK1480/ (accessed April 5, 2012).

5. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, et al. The Lowe’s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992;358:239–242.

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