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Article

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Journal of inherited metabolic disease - 1 Dec 2010

Jezela-Stanek Aleksandra, Ciara Elżbieta, Małunowicz Ewa, Chrzanowska Krystyna, Latos-Bieleńska Anna, Krajewska-Walasek Małgorzata

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder in which an error in cholesterol biosynthesis results in congenital anomalies/mental deficits. The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300...

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Source

Identifiers

PMID: 20556518
DOI: 10.1007/s10545-010-9132-4

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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