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Article

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal diagnosis - 1 Apr 2017

Lazarin Gabriel A, Haque Imran S, Evans Eric A, Goldberg James D

Abstract excerpt

OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: 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...

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Identifiers

PMID: 28166604
DOI: 10.1002/pd.5018
PMCID: PMC5413855

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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