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  • Title: Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
    Author: Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.
    Journal: J Child Neurol; 2007 Nov; 22(11):1297-300. PubMed ID: 18006960.
    Abstract:
    Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and to the best of the authors' knowledge, this is the first report of a clinically and genetically confirmed case of Smith-Lemli-Opitz syndrome in Korea.
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