Evidence map›Paper›PMID 30140196›Full record

ArticleMolecular syndromology2018

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in

Pascaline Letard, Dorien Schepers, Juliette Albuisson, Patrick Bruneval, Emmanuel Spaggiari, Gerarda Van de Beek, Suonavy Khung-Savatovsky, Nadia Belarbi, Yline Capri, Anne-Lise Delezoide and 2 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 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
0.7field-weighted citation impact, top 24% 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, 7 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. Review
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.

Pascaline LetardUnités Fonctionnelles de Fœtopathologie.
Dorien SchepersUnités Fonctionnelles de Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Juliette AlbuissonUnités Fonctionnelles de Département de Génétique.
Patrick BrunevalUnités Fonctionnelles de Service d'Anatomie et de Cytologie Pathologiques, Hôpital Européen Georges Pompidou, AP-HP, Paris, France.
Emmanuel SpaggiariUnités Fonctionnelles de Fœtopathologie.
Gerarda Van de BeekUnités Fonctionnelles de Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Suonavy Khung-SavatovskyUnités Fonctionnelles de Fœtopathologie.
Nadia BelarbiUnités Fonctionnelles de Service de Radiologie Pédiatrique, Hôpital Robert Debré.
Yline CapriUnités Fonctionnelles de Génétique Clinique, Département de Génétique.
Anne-Lise DelezoideUnités Fonctionnelles de Fœtopathologie.
Bart LoeysUnités Fonctionnelles de Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Fabien GuimiotUnités Fonctionnelles de Fœtopathologie.
Antwerp University Hospital · BEAssistance Publique – Hôpitaux de Paris · FRGénétique Médicale & Génomique Fonctionelle · FRHôpital Robert-Debré · FRUniversity of Antwerp · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Arterial tortuosityAutopsyAutosomal recessive cutis laxa type 1BBone fracturesEFEMP2Elastic tissueFBLN4FetusFibulin-4Prenatal diagnosis

Identifiers

PMID30140196
PMCPMC6103346
OpenAlexW2807451983

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.