Smith–Lemli–Opitz Mutations in Unexplained Stillbirths
Gibbins KJ, Reddy UM, Saade GR, Goldenberg RL, Dudley DJ, Parker CB, Thorsten V, Pinar H, Bukowski R, Hogue CJ, Silver RM. Smith–Lemli–Opitz Mutations in Unexplained Stillbirths. American Journal Of Perinatology 2018, 35: 936-939. PMID: 29433144, PMCID: PMC6060008, DOI: 10.1055/s-0038-1626705.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCase-Control StudiesDNA Mutational AnalysisFemaleHomozygoteHumansMutationOxidoreductases Acting on CH-CH Group DonorsPregnancyProspective StudiesSmith-Lemli-Opitz SyndromeStillbirthUnited StatesConceptsUnexplained stillbirthLive birthsPopulation-based case-control studyCase-control studySmith-LemliAutosomal recessive syndromeObstetric complicationsHistologic featuresExon 3Placental tissueStillbirthRecessive syndromeDeoxyribonucleic acidStrong associationBidirectional sequencingDHCR7 mutationsCompound heterozygotesSyndromeCholesterol biosynthesisOpitz syndromeHomozygote frequencyBirthRepresentative sampleSLOS mutationsDHCR7