Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

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...

MOST CITED AHEAD-OF PRINT

Cited By 21	Neurodevelopmental outcomes of preterm infants
Cited By 19	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 17	Association of gut microbiota with obesity in children and adolescents
Cited By 16	Nonalcoholic fatty liver disease and insulin resistance in children
Cited By 16	Prevalence of anxiety, depression, and stress among parents of neonates admitted to neonatal intensive care unit: a systematic review and meta-analysis

+more

Global burden of asthma among children and adolescents with projections to 2050: a comprehensive review and forecasted modeling study

Abdominal pain in a young girl: a twist in the tale

The Korea Infant Physical Growth Examination Survey (KIPGroS): a study protocol

Differential effects of dietary and physical activity interventions on adiposity of children with obesity

Anxiety disorders presenting as gastrointestinal symptoms in children – a scoping review

+more

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES

FOR CONTRIBUTORS

ABOUT

Editorial Office: Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306 Fax: +82-2-3473-7307 E-mail: office@e-cep.org

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/)