Clinical and Experimental Pediatrics

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Hee Na Kim (Kim HN)

2 Articles

Case Report

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

Joo Hyun Cho, Eun Song Song, Hee Na Kim, Burm Seok Oh, Young Youn Choi

Clin Exp Pediatr. 2014;57(6):292-296. Published online June 30, 2014

Crossref 8

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently...

DOI: https://doi.org/10.3345/kjp.2014.57.6.292

Original Article

Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome

Byung Gyu Yoon, Hee Na Kim, Ui Joung Han, Hae In Jang, Dong Kyun Han, Hee Jo Baek, Tai Ju Hwang, Hoon Kook

Clin Exp Pediatr. 2014;57(3):125-134. Published online March 31, 2014

Crossref 9

Purpose

The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease.

Methods

The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed.

Results

The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more...

DOI: https://doi.org/10.3345/kjp.2014.57.3.125

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