Clinical and Experimental Pediatrics

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Original Article

Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome

Ji Eun Lee, Kwang Bin Moon, Jong Hee Hwang, Eun Kyung Kwon, Sun Hee Kim, Jong Won Kim, Dong Kyu Jin

Clin Exp Pediatr. 2002;45(9):1126-1133. Published online September 15, 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from...

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