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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates
Objective: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. Design: Retrospective analysis of patients from the general population who have undergone carrier screening for SLOS. Setting: Individuals were offered and elected carrier screening in their respective physician's offices. Patients: 262,399 individuals with no indication of family or personal history of Smith-Lemli-Opitzdoi:10.1101/085084 fatcat:qfrt5heasvehjcdlszr76lyyhq