Ontology highlight
ABSTRACT:
SUBMITTER: Lazarin GA
PROVIDER: S-EPMC5413855 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Lazarin Gabriel A GA Haque Imran S IS Evans Eric A EA Goldberg James D JD
Prenatal diagnosis 20170309 4
<h4>Objective</h4>To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences.<h4>Methods</h4>A total of 262 399 individuals with no known indication or increased probability of SLOS carrier status, primarily US based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups. S ...[more]