Evidence map›Paper›PMID 33949289›Full record

ArticleOphthalmic genetics2021

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Deena Godfrey, Alcy Torres, Gena Heidary, Hovra Zahoor, Arthur Lee, Gerard Berry, Elizabeth Engle

Open access · greenAbstract readCase Reports
In one paragraph

Article in Ophthalmic genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 25% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Case Report: A novel missense variant inFrontiers in pediatrics · 2025
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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.

Deena GodfreyDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.ORCID 0000-0003-0949-9437
Alcy TorresDepartment of Pediatrics, Boston Medical Center, Boston, Massachusetts, USA.
Gena HeidaryOphthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
Hovra ZahoorDepartment of Pediatrics, Boston Medical Center, Boston, Massachusetts, USA.
Arthur LeeNeurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Gerard BerryMetabolism, Boston Children's Hospital, Boston, Massachusetts, USA.
Elizabeth EngleOphthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
Boston Children's Hospital · USBoston Medical Center · USMassachusetts General Hospital · US

Funding

Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
NICHD NIH HHS U54 HD090255
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MutationApraxiasArthrogryposisBlepharoptosisChildCodon, NonsenseCongenital Cranial Dysinnervation DisordersContractureDuane Retraction SyndromeExome SequencingFemaleGenetic Diseases, X-LinkedHeart Defects, CongenitalHumansIntracellular Signaling Peptides and ProteinsJaw AbnormalitiesCodon, NonsenseIntracellular Signaling Peptides and ProteinsNuclear ProteinsZC4H2 protein, humanArthrogryposisduaneMarcus-GunnWieacker-Wolff

Identifiers

PMID33949289
PMCPMC8903185
OpenAlexW3159531261

What OpenQuestion holds

Textmetadata
LicenceTDM
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.