Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

Case Report

A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene

Mee Rim Park, Jung Min Ko, Chong-Keun Cheon, Gu-Hwan Kim, Han-Wook Yoo

Clin Exp Pediatr. 2008;51(11):1236-1240. Published online November 15, 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with...

MOST CITED ACCEPTED ARTICLES

Cited By 23	Neurodevelopmental outcomes of preterm infants
Cited By 20	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 18	Nonalcoholic fatty liver disease and insulin resistance in children
Cited By 17	Association of gut microbiota with obesity in children and adolescents
Cited By 16	Gut microbiota affects brain development and behavior

+more

Navigating the complex behavioral landscape of children in foster care and adopted families

Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1

Metabolic dysfunction-associated steatotic liver disease in children: a practical update based on Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition (ISPGHAN) 2024 guidelines

Intermittent sigh breaths during high-frequency oscillatory ventilation among newborn infants

COVID-19 vaccine hesitancy among parents of children with systemic lupus erythematosus: a comment

+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/)