Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of
Eszter Kovács, Zsuzsanna Szűcs, Miroslav Horňák, David Kubíček, Kateřina Weisová, Kateřina Veselá, Lenka Krůzová, Jan Geryk, Jan Diblík, Martina Bittóová and 3 more
Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Jan GerykDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, 150 06 Prague, Czech Republic.
Jan DiblíkGENNET, Centre of Medical Genetics and Reproductive Medicine, 170 00 Prague, Czech Republic.ORCID 0000-0002-0627-9124
Martina BittóováGENNET, Centre of Medical Genetics and Reproductive Medicine, 170 00 Prague, Czech Republic.
Milan MacekDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, 150 06 Prague, Czech Republic.ORCID 0000-0002-5173-5280
István BaloghDepartment of Medical Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.ORCID 0000-0003-3397-2829
Katalin KoczokDepartment of Medical Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Funding
Czech Ministry of Health 00064203Czech Ministry of Youth Education and Sports LM2018132
6 · The paper itself
Abstract
backgroundSmith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis, caused by biallelic mutations in the
methodsA retrospective analysis of
resultsThe SLOS carrier frequency and the mutational spectrum of the
conclusionsThe high SLOS carrier frequency (2.83%) underscores the importance of SLOS carrier screening in Central European populations. The prevalent
Indexed as
Oxidoreductases Acting on CH-CH Group DonorsSmith-Lemli-Opitz SyndromeAllelesCzech RepublicFemaleGene FrequencyHeterozygoteHumansHungaryMaleMutationPrevalenceRetrospective Studies7-dehydrocholesterol reductaseOxidoreductases Acting on CH-CH Group Donorscarrier frequencyDHCR7SLOSSmith–Lemli–Opitz syndrome
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of · full record | OpenQuestion