Evidence map›Paper›PMID 32695376›Full record

ArticleClinical case reports2020

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.

Caroline Gounongbé, Martina Marangoni, Vanessa Gouder de Beauregard, Mélanie Delaunoy, Patrice Jissendi, Marie Cassart, Julie Désir

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

Article in Clinical case reports, 2020. 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
0.3field-weighted citation impact, top 47% 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, 5 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

7 authors at 3 institutions in 1 country.

Caroline GounongbéDepartment of Fetal Medicine CHU Saint-Pierre Brussels Belgium.ORCID https://orcid.org/0000-0002-7408-883X
Martina MarangoniCenter of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.ORCID https://orcid.org/0000-0002-9416-2400
Vanessa Gouder de BeauregardDepartment of Pediatrics CHU Saint-Pierre Brussels Belgium.
Mélanie DelaunoyCenter of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.
Patrice JissendiDepartment of Radiology Hôpitaux Iris Sud and CHU Saint-Pierre Brussels Belgium.
Marie CassartDepartment of Fetal Medicine CHU Saint-Pierre Brussels Belgium.ORCID https://orcid.org/0000-0003-2766-1805
Julie DésirCenter of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.
Université Libre de Bruxelles · BECentre Hospitalier Universitaire de Saint-Pierre · BEHôpitaux Iris Sud · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.

Indexed as

middle interhemispheric variant of holoprosencephalymissense mutationsyntelencephalyZIC2

Identifiers

PMID32695376
PMCPMC7364085
OpenAlexW3021471724

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.