Clinical and Experimental Pediatrics

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Yoon Sung Kang (Kang YS)

1 Article

Original Article

Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis

Ho Sung Kim, Yoon Sung Kang, Kyung Hyo Kim, Young Mi Hong, Yong Soo Yun, Kwang Ho Lee

Clin Exp Pediatr. 1999;42(1):47-59. Published online January 15, 1999

Purpose : Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes the elastin gene. We examined the hemizygotic deletion of Chromosome 7q11.23 in 12 Korean Williams syndrome patients and 8 patients with isolated supravalvular aortic stenosis and performed deletion mapping...

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