Evidence map›Paper›PMID 38161545›Full record

ArticleCureus2023

DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.

Hussain A Al Ghadeer, Fouad A Alghazal, Marwah A Alessa, Jinan A Alghafli, Ghufran I Alkhalaf, Hassan N Bumejdad, Rabab M Alherz, Razan A Alshaikh Saleh, Khulud A Almumtin, Ahmed K Abu Sinah

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PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 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
0.6field-weighted citation impact, top 22% 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

10 authors at 3 institutions in 1 country.

Hussain A Al GhadeerPaediatrics, Maternity and Children Hospital, Al-Ahsa, SAU.
Fouad A AlghazalNeonatology, Maternity and Children Hospital, Al-Ahsa, SAU.
Marwah A AlessaPediatrics, Maternity and Children Hospital, Al-Ahsa, SAU.
Jinan A AlghafliPediatrics, Maternity and Children Hospital, Al-Hofuf, SAU.
Ghufran I AlkhalafPediatrics, Maternity and Children Hospital, Al-Ahsa, SAU.
Hassan N BumejdadPediatrics, Almaarefa University, Riyadh, SAU.
Rabab M AlherzPediatrics, Maternity and Children Hospital, Al-Ahsa, SAU.
Razan A Alshaikh SalehPediatrics, King Faisal University, Al-Ahsa, SAU.
Khulud A AlmumtinPediatrics, King Faisal University, Al-Ahsa, SAU.
Ahmed K Abu SinahPediatrics, King Faisal University, Al-Ahsa, SAU.
Alfaisal University · SAMaternity and Children's Hospital · SAKing Faisal University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios, macrosomia, facial dysmorphism, renal dysplasia, and several congenital abnormalities with Wilms tumor propensity are its defining features. Beckwith-Wiedemann syndrome (BWS), prune belly syndrome (PBS), and Simpson-Golabi-Behmel syndrome (SGBS1) have certain similar clinical characteristics with Perlman syndrome. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long-term survivors. Here, we present a case with the classic clinical features of Perlman syndrome and a DIS3L2 gene deletion that was discovered prenatally.

Indexed as

dis3l2 genenephroblastomatosisovergrowthperlman syndromepolyhydramniossaudi arabia

Identifiers

PMID38161545
PMCPMC10757746
OpenAlexW4389245508

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.