Evidence map›Paper›PMID 39055085›Full record

ArticleClinical case reports2024

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.

Fatemeh Yadegari, Aseel Rashid Abed, Widad Yadallah Abd Ali, Haider Hamza Al-Abedi, Shiva Zarinfam, Solaleh Aminian, Keivan Majidzadeh-A

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 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

7 authors.

Fatemeh YadegariGenetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.
Aseel Rashid AbedWarith International Cancer Institute Karbala Iraq.
Widad Yadallah Abd AliWarith International Cancer Institute Karbala Iraq.
Haider Hamza Al-AbediWarith International Cancer Institute Karbala Iraq.
Shiva ZarinfamGenetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.
Solaleh AminianGenetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.
Keivan Majidzadeh-AGenetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.ORCID https://orcid.org/0000-0002-8811-0997

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study presents a family with nine children, two of them diagnosed with RTS2 using genetic testing. The other siblings show some of the RTS2 criteria and are suggestive of the syndrome. Such reports help physicians be more alert in dealing with cases of rare syndromes. Timely initiation of genetic counseling and testing once the first child was diagnosed with the syndrome could have prevented the birth of affected siblings by RTS2. Since RTS2 patients could have a severe clinical manifestation as osteosarcoma which probably leads to death at a young age, the importance of genetic testing is even more underlined.

Indexed as

biallelic mutationshumanmiceN‐terminal homozygous frameshift mutationRECQL4 geneRothmund–Thomson type II syndrome (RTS2)

Identifiers

PMID39055085
PMCPMC11268933

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.