Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? [electronic resource]
Producer: 20140408Description: S241-8 p. digitalISSN:- 1573-2665
- Amniotic Fluid -- chemistry
- Biomarkers -- analysis
- Chorionic Villi -- chemistry
- DNA Mutational Analysis
- Dehydrocholesterols -- analysis
- Female
- Fetal Death -- epidemiology
- Gas Chromatography-Mass Spectrometry
- Gene Frequency
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Incidence
- Infant, Newborn
- Live Birth
- Mutation
- Neonatal Screening -- methods
- Phenotype
- Poland -- epidemiology
- Predictive Value of Tests
- Pregnancy
- Prenatal Diagnosis -- methods
- Prevalence
- Prospective Studies
- Smith-Lemli-Opitz Syndrome -- diagnosis
- Time Factors
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Publication Type: Journal Article
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