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References

These sources were used to develop the Genetics Home Reference condition summary on Smith-Lemli-Opitz syndrome.

Gene Review: Smith-Lemli-Opitz Syndrome
Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann Hum Genet. 2003 May;67(Pt 3):269-80. Review. PubMed citation
Nowaczyk MJ, Waye JS, Douketis JD. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? Am J Med Genet A. 2006 Oct 1;140(19):2057-62. Review. PubMed citation
Nowaczyk MJ, Waye JS. The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Clin Genet. 2001 Jun;59(6):375-86. Review. PubMed citation
Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Mol Genet Metab. 2000 Sep-Oct;71(1-2):163-74. Review. PubMed citation
Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2006 Jul 15;140(14):1511-8. PubMed citation
Yu H, Patel SB. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5):383-91. Review. Erratum in: Clin Genet. 2005 Dec;68(6):570. PubMed citation

Reviewed: July 2007

Published: May 13, 2013