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Clinical Note
Neurology
Expanding association between BICD2 variants and brain malformations and associated lissencephaly
Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae
Clin Exp Pediatr. 2024;67(1):54-56.   Published online December 21, 2023
Genetics and Metabolism
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim
Clin Exp Pediatr. 2023;66(3):142-144.   Published online December 30, 2022
Case Report
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 2010;53(6):718-721.   Published online June 23, 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell...

Review Article
Neuromuscular disorders in children : Diagnosis and treatment
Jong Hee Chae
Clin Exp Pediatr. 2008;51(12):1295-1299.   Published online December 15, 2008
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on...
Case Report
A case of Menkes disease with unusual hepatomegaly
Go Un Jeong, Anna Cho, Hee Hwang, Yong Seung Hwang, Ki Joong Kim, Jong Hee Chae, Jeong Kee Seo
Clin Exp Pediatr. 2008;51(5):538-541.   Published online May 15, 2008
Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective- tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four- month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma,...
Original Article
Diagnostic classification and clinical aspects of floppy infants in the neonatal and pediatric intensive care units
Eun Sun Kim, Kyung Eun Jung, Sang Duk Kim, Eo Kyung Kim, Jong Hee Chae, Han Suk Kim, June Dong Park, Ki Joong Kim, Beyong Il Kim, Yong Seung Hwang, Jung-Hwan Choi
Clin Exp Pediatr. 2006;49(11):1158-1166.   Published online November 15, 2006
Purpose : The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants admitted to intensive care units with the complaint of hypotonia. Methods : A retrospective study was performed from Jan. 1993 to Dec. 2005 in neonatal and pediatric intensive care units...
Clinical Lecture
Neuromuscular Disorders in Childhood
Jong Hee Chae, Yong Seung Hwang
Clin Exp Pediatr. 2003;46(2):109-115.   Published online February 15, 2003
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