Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome
Author:
Affiliation:
1. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester MN USA
2. Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Bethesda MD USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference4 articles.
1. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations;Witsch-Baumgartner;Eur J Hum Genet,2001
2. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts;Wassif;Mol Genet Metab,2005
3. Maternal serum cholesterol levels are elevated from the 1st trimester of pregnancy: a cross-sectional study;Bartels;J Obstet Gynaecol,2012
4. A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol;Zhu;Hum Mol Genet,2007
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1. Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest Patient;Molecular Syndromology;2024
2. Congenital Disorders of Glycosylation, Peroxisomal Disorders, and Smith-Lemli-Opitz Syndrome;Avery's Diseases of the Newborn;2024
3. Dose–Response Effects of 7-Dehydrocholesterol Reductase Inhibitors on Sterol Profiles and Vesicular Stomatitis Virus Replication;ACS Pharmacology & Translational Science;2022-10-25
4. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29
5. Auditory phenotype of Smith–Lemli–Opitz syndrome;American Journal of Medical Genetics Part A;2021-02-02
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