Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg200810.pdf
Reference51 articles.
1. Smith DW, Lemli L, Opitz JM : A newly recognized syndrome of multiple congenital anomalies. Journal of Pediatrics 1964; 64: 210–217.
2. Irons M, Elias ER, Salen G, Tint GS, Batta AK : Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 1993; 341: 1414.
3. Fitzky BU, Witsch-Baumgartner M, Erdel M et al: Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 1998; 95: 8181–8186.
4. Wassif CA, Maslen C, Kachilele-Linjewile S et al: Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 1998; 63: 55–62.
5. Waterham HR, Wijburg FA, Hennekam RC et al: Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 1998; 63: 329–338.
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