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So Won Kim (Kim SW)

1 Article

Case Report

Two Cases of Oculocerebrorenal Syndrome of Lowe

So Won Kim, Young Suk Yu, In-One Kim, Hae Il Cheong, Yong Seung Hwang, Yong Choi

Clin Exp Pediatr. 1999;42(3):419-423. Published online March 15, 1999

Oculocerebrorenal syndrome of Lowe(OCRL) is a rare X-linked disorder characterized by congenital cataract(oculo-), hypotonia, developmental delay, cognitive impairment(cerebro-), renal tubular dysfunction(renal), and growth retardation. Recently, the defective gene, OCRL-1 gene encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. Although there have been about 200 cases of OCRL reported in English literature, only three reports have been published in...

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