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Original Article

Lowe syndrome: a single center's experience in Korea

Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2014;57(3):140-148. Published online March 31, 2014

Crossref 13

Purpose

Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.

Methods

The clinical findings and results of genetic studies were...

DOI: https://doi.org/10.3345/kjp.2014.57.3.140

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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Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)