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Biochemical variants of Smith-Lemli-Opitz syndrome.
Am J Med Genet. 1999 Aug 27;85(5):517-23. doi: 10.1002/(sici)1096-8628(19990827)85:5<517::aid-ajmg18>3.0.co;2-1.
Am J Med Genet. 1999.
PMID: 10405455
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.
Wassif CA, et al.
Mol Genet Metab. 2005 Jun;85(2):96-107. doi: 10.1016/j.ymgme.2004.12.009. Epub 2005 Feb 5.
Mol Genet Metab. 2005.
PMID: 15896653
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Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
Anstey AV, Azurdia RM, Rhodes LE, Pearse AD, Bowden PE.
Anstey AV, et al.
Br J Dermatol. 2005 Oct;153(4):774-9. doi: 10.1111/j.1365-2133.2005.06761.x.
Br J Dermatol. 2005.
PMID: 16181459
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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Roullet JB, Merkens LS, Pappu AS, Jacobs MD, Winter R, Connor WE, Steiner RD.
Roullet JB, et al.
J Inherit Metab Dis. 2012 Sep;35(5):859-69. doi: 10.1007/s10545-012-9453-6. Epub 2012 Mar 6.
J Inherit Metab Dis. 2012.
PMID: 22391996
Free PMC article.
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Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Chang S, Ren G, Steiner RD, Merkens L, Roullet JB, Korade Z, DiMuzio PJ, Tulenko TN.
Chang S, et al.
Mol Genet Metab Rep. 2014;1:431-442. doi: 10.1016/j.ymgmr.2014.09.005.
Mol Genet Metab Rep. 2014.
PMID: 25405082
Free PMC article.
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Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
Anderson AJ, Stephan MJ, Walker WO, Kelley RI.
Anderson AJ, et al.
Am J Med Genet. 1998 Aug 6;78(5):413-8. doi: 10.1002/(sici)1096-8628(19980806)78:5<413::aid-ajmg4>3.0.co;2-m.
Am J Med Genet. 1998.
PMID: 9714006
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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.
Witsch-Baumgartner M, et al.
Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760.
Am J Hum Genet. 2000.
PMID: 10677299
Free PMC article.
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