Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

Case Report

Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions

Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung

Clin Exp Pediatr. 2007;50(8):789-793. Published online August 15, 2007

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the...

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/)