Clinical and Experimental Pediatrics

Case Report

A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene

Hyuk Lee, Jung In Park, Sun Young Kim,, Kyeung Hee Moon, Ho Keun Yi, Pyoung Han Hwang

Clin Exp Pediatr. 2005;48(5):551-556. Published online May 15, 2005

Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated...

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Original Article

Echocardiographic Study of the Ventricular Septal Defect with Subaortic Ridge

Kyeung Hee Moon, Pyoung Han Hwang, Chan Uhng Joo

Clin Exp Pediatr. 1997;40(5):629-634. Published online May 15, 1997

Purpose : The easy recognition and characterization of a discrete or fixed subaortic ridge by echocardiography provides a method for prospective study of the coexistence of ventricular septal defect(VSD) and subaortic ridge. In the presence of a VSD, a subaortic ridge may be clinically silent, but the obstruction can progress if the VSD is surgically or spontaneously closed. This study...

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Case Report

A Case of Peripheral Pulmonary Artery Aneurysm without Pulmonary Hypertension

Kyeung Hee Moon, Woo Suk Juhng, Chan Uhng Joo

Clin Exp Pediatr. 1997;40(2):284-287. Published online February 15, 1997

Aneurysm of the pulmonary artery is a rare entity. Aneurysm of the peripheral artery are even less common. An 14-year-old girl was admitted for the evaluation of cardiac murmur. There was a variable grade 2/6 systolic murmur along the left sternal border. The chest x-ray showed a round mass in the right perihilar region. Echocardiogram demonstrated a small muscular ventricular septal defect with mild...

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