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Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

Deficient 7-Dehydrocholesterol-δ7-reductase ActivityOxysterolBiochemistryRapid IdentificationGenetic DisorderGeneticsInherited Metabolic DiseaseHematologyPathologyMedicineSmith-lemlip-opitz Syndrome HomozygotesOxidative Stress