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References

These sources were used to develop the Genetics Home Reference gene summary on the DHCR7 gene.

Correa-Cerro LS, Porter FD. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2005 Feb;84(2):112-26. Epub 2004 Dec 19. Review. PubMed citation
Entrez Gene
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, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey D, Eng B, Nakamura LM, Waye JS. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2004 Mar 1;125A(2):173-6. 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
Tulenko TN, Boeze-Battaglia K, Mason RP, Tint GS, Steiner RD, Connor WE, Labelle EF. A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J Lipid Res. 2006 Jan;47(1):134-43. Epub 2005 Oct 28. PubMed citation
Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Hum Mutat. 2005 Jul;26(1):59. 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


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