Evidence map›Paper›PMID 33890232›Full record

ArticleJournal of applied genetics2021

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

A Różdżyńska-Świątkowska, E Ciara, P Halat-Wolska, M Krajewska-Walasek, A Jezela-Stanek

Erratum issuedAbstract read
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In one paragraph

Article in Journal of applied genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 49% of its field
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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 2 countries.

A Różdżyńska-ŚwiątkowskaAnthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland. a.rozdzynska-swiatkowska@ipczd.pl.
E CiaraDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
P Halat-WolskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
M Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
A Jezela-StanekDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. jezela@gmail.com.ORCID https://orcid.org/0000-0001-9814-0324
Children's Memorial Health Institute · PLMasih Daneshvari Hospital · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders. Its primary cause lies in the defect in cholesterol biosynthesis-7-dehydrocholesterol reductase (DHCR7)-caused by pathogenic variants in the homonymous gene. Anthropometric anomalies, especially growth restriction and microcephaly, are among the most common physical manifestations of SLOS. There have been no studies analyzing the correlation between genotype, biochemical marker (7-dehydrocholesterol), and the birth and growth parameters for individuals with SLOS. This paper presents anthropometric data from the group of 65 Polish patients (aged 0.1 to 18 years) with Smith-Lemli-Opitz syndrome, with genotype and biochemical correlations for birth parameters, as well as growth in relation to molecular DHCR7 variants.

Indexed as

AnthropometryOxidoreductases Acting on CH-CH Group DonorsSmith-Lemli-Opitz SyndromeAdolescentChildChild, PreschoolGenotypeHumansInfantPoland7-dehydrocholesterol reductaseOxidoreductases Acting on CH-CH Group Donors7-DehydrocholesterolAnthropometryDHCR7 geneGrowthSmith-Lemli-Opitz syndrome

Identifiers

PMID33890232
OpenAlexW3153016826

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.