Evidence map›Paper›PMID 39635340›Full record

ArticleCase reports in genetics2024

A Case Report on 13q12.3 Microdeletion Syndrome Caused by

Ting Wen, Brian J Shayota, Lauren Wallace, Coumarane Mani, Neal Davis, Jian Zhao

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PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Ting WenDepartment of Pathology, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.ORCID https://orcid.org/0009-0006-7209-5565
Brian J ShayotaDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Lauren WallaceARUP Laboratories, Salt Lake City, Utah 84108, USA.
Coumarane ManiARUP Laboratories, Salt Lake City, Utah 84108, USA.
Neal DavisIntermountain Hillcrest Pediatrics, Murray, Utah 84107, USA.
Jian ZhaoDepartment of Pathology, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.ORCID https://orcid.org/0009-0001-3366-5194

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Heterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 microdeletions vary in size and typically encompass multiple genes. Previous studies have defined a minimal overlap region of 13q12.3 microdeletions and suggested that most of the phenotype associated with the 13q12.3 microdeletion syndrome could be attributed to the loss of the high mobility group box 1 (

Indexed as

13q12.3 microdeletion syndromeatopydevelopmental delayHMGB1 deletion

Identifiers

PMID39635340
PMCPMC11617041

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Registered trials

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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.