Evidence map›Paper›PMID 29358614›Full record

ArticleEuropean journal of human genetics : EJHG2018

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Molka Kammoun, Paul Brady, Luc De Catte, Jan Deprest, Koenraad Devriendt, Joris Robert Vermeesch

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PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 35% 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

5 citing papers in PubMed, 10 citations in OpenAlex.

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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

6 authors at 1 institution in 1 country.

Molka KammounDepartment of Human Genetics, KU Leuven, O&N I Herestraat 49, box 602, 3000, Leuven, Belgium.
Paul BradyDepartment of Human Genetics, KU Leuven, O&N I Herestraat 49, box 602, 3000, Leuven, Belgium.
Luc De CatteDepartment Obstetrics and Gynecology, University Hospital Leuven, Leuven, Belgium.
Jan DeprestDepartment Obstetrics and Gynecology, University Hospital Leuven, Leuven, Belgium.
Koenraad DevriendtDepartment of Human Genetics, KU Leuven, O&N I Herestraat 49, box 602, 3000, Leuven, Belgium.ORCID http://orcid.org/0000-0002-3651-2548
Joris Robert VermeeschDepartment of Human Genetics, KU Leuven, O&N I Herestraat 49, box 602, 3000, Leuven, Belgium. joris.vermeesch@uzleuven.be.
KU Leuven · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

Indexed as

PhenotypeAnimalsCataractCodon, NonsenseDiaphragmGenetic Diseases, X-LinkedHernias, Diaphragmatic, CongenitalHumansInfant, NewbornLoss of Function MutationMaleMembrane ProteinsMiceNuclear ProteinsTooth AbnormalitiesCodon, NonsenseMembrane ProteinsNHS protein, humanNuclear Proteins

Identifiers

PMID29358614
PMCPMC5839023
OpenAlexW2791891538

What OpenQuestion holds

Textmetadata
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.