Smith-Lemli-Opitz Syndrome: The First Malformation Syndrome Associated with Defective Cholesterol Synthesis
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference69 articles.
1. A newly recognized syndrome of multiple congenital anomalies;Smith;J Pediatr,1964
2. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome;Irons;Lancet,1993
3. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome;Tint;N Engl J Med,1994
4. Molecular cloning and expression of the human delta7-sterol reductase;Moebius;Proc Natl Acad Sci USA,1998
5. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome;Wassif;Am J Hum Genet,1998
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