Evidence map›Paper›PMID 33505690›Full record

ArticleClinical case reports2021

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.

Aurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini and 2 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 5 institutions in 2 countries.

Aurora ArghirVictor Babes National Institute of Pathology Bucharest Romania.ORCID https://orcid.org/0000-0002-9315-5604
Sorina Mihaela PapucVictor Babes National Institute of Pathology Bucharest Romania.
Andreea-Cristina Tutulan-CunitaVictor Babes National Institute of Pathology Bucharest Romania.
Alina ErbescuVictor Babes National Institute of Pathology Bucharest Romania.
Sara LoddoBambino Gesù Children's Hospital IRCCS Rome Italy.
Silvia GenoveseBambino Gesù Children's Hospital IRCCS Rome Italy.
Laura CioccaBambino Gesù Children's Hospital IRCCS Rome Italy.
Marina GoldoniIRCCS Casa Sollievo della Sofferenza Foundation San Giovanni Rotondo Italy.
Carmelo PiscopoAntonio Cardarelli Hospital Naples Italy.
Laura BernardiniIRCCS Casa Sollievo della Sofferenza Foundation San Giovanni Rotondo Italy.ORCID https://orcid.org/0000-0002-3554-2817
Antonio NovelliBambino Gesù Children's Hospital IRCCS Rome Italy.
Magdalena BudisteanuVictor Babes National Institute of Pathology Bucharest Romania.
Bambino Gesù Children's Hospital · ITInstitutul National Victor Babes · ROCasa Sollievo della Sofferenza · ITOspedale Antonio Cardarelli · ITTitu Maiorescu University · RO

Funding

Wellcome Trust
6 · The paper itself

Abstract

Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.

Indexed as

geneticspediatrics and adolescent medicinepsychiatry

Identifiers

PMID33505690
PMCPMC7813129
OpenAlexW3100656308

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.