Evidence map›Paper›PMID 38585545›Full record

ArticleMolecular syndromology2024

Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in

Atilla Cayir, Ayberk Turkyilmaz, Hannah Rabenstein, Fadime Guven, Yuksel Sumeyra Karagoz, Dogus Vuralli, Martin Wabitsch, Huseyin Demirbilek

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2024. 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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
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

8 authors.

Atilla CayirDepartment of Paediatric Endocrinology, Erzurum Training and Research Hospital, Erzurum, Turkey.
Ayberk TurkyilmazDepartment of Medical Genetics, Erzurum Training and Research Hospital, Erzurum, Turkey.
Hannah RabensteinInstitute of Human Genetics, University Hospital of Ulm, Ulm, Germany.
Fadime GuvenDepartment of Radiology, Erzurum Training and Research Hospital, Erzurum, Turkey.
Yuksel Sumeyra KaragozDepartment of Psychiatry, Erzurum Training and Research Hospital, Erzurum, Turkey.
Dogus VuralliDepartment of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Martin WabitschCenter for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, Ulm University Hospital, Ulm, Germany.
Huseyin DemirbilekDepartment of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The " Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m Discussion/Conclusion: Our study expands the phenotypical manifestations and variation database of

Indexed as

CEP19CiliopathyDiabetesGeneticsMonogenic obesity

Identifiers

PMID38585545
PMCPMC10996348

What OpenQuestion holds

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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.