Evidence map›Paper›PMID 37664053›Full record

ArticleFrontiers in oncology2023

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous

Firas Akrout, Ahlem Achour, Carli M J Tops, Richard Gallon, Rym Meddeb, Sameh Achoura, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Ridha Chkili and 3 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in oncology, 2023. 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
0.5field-weighted citation impact, top 31% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

13 authors at 6 institutions in 3 countries.

Firas AkroutDepartment of Neurosurgery, Military Hospital of Tunis, Tunis, Tunisia.
Ahlem AchourDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Carli M J TopsDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Richard GallonTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
Rym MeddebDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Sameh AchouraDepartment of Neurosurgery, Military Hospital of Tunis, Tunis, Tunisia.
Mariem Ben RekayaResearch Unit of Onco-theranostic Biomarkers UR17ES15, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Emna HamdeniResearch Unit of Onco-theranostic Biomarkers UR17ES15, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Soumaya RammehResearch Unit of Onco-theranostic Biomarkers UR17ES15, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Ridha ChkiliDepartment of Neurosurgery, Military Hospital of Tunis, Tunis, Tunisia.
Nada MansouriFaculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Neila BelguithDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Ridha MradDepartment of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Tunis El Manar University · TNFaculté de médecine de TunisLeiden University Medical Center · NLTunis University · TNHôpital Charles-Nicolle · TNNewcastle University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous

Indexed as

case reportCMMRDcMSIhereditary cancer syndromesLynch syndromeMLH1 genenext-generation sequencing

Identifiers

PMID37664053
PMCPMC10471184
OpenAlexW4385985420

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.