Article

Smith-Lemli-Opitz syndrome carrier frequency and estimates of <i>in utero</i> mortality rates

2016-11-02

Abstract excerpt

<h4>ABSTRACT</h4> <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>Design: </h4> Retrospective analysis of patients from the general population who have undergone carrier screening for SLOS. <h4>Setting: </h4> Individuals were offered and elected carrier screening in their res...

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Literature Corpus work: 6091ea1e-313a-5bfd-9033-c005f75a6d07
DOI: 10.1101/085084

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