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Review Article
Nephrology (Genitourinary)
Genetics of hereditary nephrotic syndrome: a clinical review
Tae-Sun Ha
Clin Exp Pediatr. 2017;60(3):55-63.   Published online March 27, 2017

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic...

Case Report
A case of hereditary hemorrhagic telangiectasia
Young Seung Lee, Seonguk Kim, Eun Kyeong Kang, June Dong Park
Clin Exp Pediatr. 2007;50(10):1018-1023.   Published online October 15, 2007
Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary...
Arthrogryposis Multiplex Congenita in Siblings
Kyoung Hee Choi, Jeong Ah Park, Kyoung Sim Kim, Ki Bok Kim
Clin Exp Pediatr. 1995;38(9):1293-1298.   Published online September 15, 1995
Arthrogryposis multiplex congenita is a rare congenital disorder characterized by multiple fixed-joint deformities of the upper and lower extremities. Most cases are sporadic, although rare cases of familial recurrence are reported worldwide. Recently, we experienced 2 cases of arthrogryposis multiplex congenita in a family (a brother and a sister). They were born with micrognathia, low set ears, broad and short...
A Case of the Dubowitz Syndrome.
Kyung Ae Lee, Chi Ho Yun, Jae Sun Jung, Hee Ju Kim, Sung Ill Ahn, Hyung Ro Moon
Clin Exp Pediatr. 1986;29(4):436-440.   Published online April 30, 1986
The Dubowitz syndrome is an autosomal recessive condition characterized by intrauterine growth retardation, postnanal growth retardation, peculiar facial appearance, short stature, low birth weight, microcephaly and borderline intelligence or mild mental retardation. We reported a typical case of the Dubowitz syndrome in a full term male infant together with a brief review of pertinent literatures since the incidence of the...
Original Article
A Case Report of Ventricular Septal Defect and Aortic Valve Insufficiency Occurred in Siblings.
K H Kim, S S Kim, J H Sul, S K Lee, D S Chin
Clin Exp Pediatr. 1985;28(4):386-389.   Published online April 30, 1985
The occurrence of congenital heart disease can be explained by genetic or environmental aspects. But these factors act separately only in about 10% and most of all, which reaches up to 90%, are inherited by the pattern of multifactorial inheritance, in which there is an underlying genetic predisition, usually produced by the small effects of many genes interacting with an...