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Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome
Cited 4 time in
Web of Science
Cited 4 time in Scopus
- Authors
- Issue Date
- 2007-11-17
- Publisher
- Sage
- Citation
- J Child Neurol. 2007 Nov;22(11):1297-300.
- Keywords
- Arginine/genetics ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Korea ; Lysine/genetics ; Oxidoreductases Acting on CH-CH Group Donors/*genetics ; Smith-Lemli-Opitz Syndrome/*genetics/pathology ; Mutation
- 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.
- ISSN
- 0883-0738 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18006960
https://hdl.handle.net/10371/29773
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