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- W2181566350 abstract "Lowe syndrome (oculo-cerebro-renal syndrome of Lowe) is a rare X-linked recessive disorder characterized by the involvement of eyes, brain and kidneys. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase, which is required for the intracellular trafficking, second messengers and for the other aspects of cellular metabolism. The gene coding for this enzyme, OCRL1, has been localised at Xq25-q26.1 and mutations in it are reported to cause Lowe Syndrome. In this article we report two male siblings, from North India, with Lowe syndrome." @default.
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- W2181566350 date "2002-12-01" @default.
- W2181566350 modified "2023-09-23" @default.
- W2181566350 title "Lowe Syndrome (Oculocerebrorenal Syndrome of Lowe): A Case Report of Two Brothers from India" @default.
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- W2181566350 doi "https://doi.org/10.1080/09723757.2002.11885812" @default.
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